Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 4867 |
| ensemblid | ENSG00000144061.14 |
| hgncid | 7905 |
| symbol | NPHP1 |
| name | nephrocystin 1 |
| refseq_nuc | NM_001128178.3 |
| refseq_prot | NP_001121650.1 |
| ensembl_nuc | ENST00000445609.7 |
| ensembl_prot | ENSP00000389879.3 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 110123348 |
| end | 110205013 |
| strand | - |
| ver | v1.2 |
| region | chr2:110123348-110205013 |
| region5000 | chr2:110118348-110210013 |
| regionname0 | NPHP1_chr2_110123348_110205013 |
| regionname5000 | NPHP1_chr2_110118348_110210013 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 677 | 309 | 76 | 51 | 135 | 10 | 37 | 101 | NPHP1_chr2_110118348_110210013 | NPHP1 | MLARR others(672): Show |
chr2 | 110118348 | 110210013 |
| a0002 | 0/0 | 677 | 6 | 6 | 0 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | MLARR others(672): Show |
chr2 | 110118348 | 110210013 |
| a0003 | 0/0 | 677 | 3 | 0 | 0 | 0 | 2 | 1 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | MLARR others(672): Show |
chr2 | 110118348 | 110210013 |
| a0004 | 0/0 | 677 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | MLARR others(672): Show |
chr2 | 110118348 | 110210013 |
| a0005 | 0/0 | 677 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | MLARR others(672): Show |
chr2 | 110118348 | 110210013 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 2031 | 157 | 37 | 30 | 70 | 5 | 15 | NPHP1_chr2_110118348_110210013 | NPHP1 | ATGCT others(2026): Show |
chr2 | 110118348 | 110210013 | ||
| a0001c0002 | 0/0 | 2031 | 151 | 38 | 21 | 65 | 5 | 22 | NPHP1_chr2_110118348_110210013 | NPHP1 | ATGCT others(2026): Show |
chr2 | 110118348 | 110210013 | ||
| a0001c0005 | 0/0 | 2031 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | ATGCT others(2026): Show |
chr2 | 110118348 | 110210013 | ||
| a0002c0003 | 0/0 | 2031 | 6 | 6 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | ATGCT others(2026): Show |
chr2 | 110118348 | 110210013 | ||
| a0003c0004 | 0/0 | 2031 | 3 | 0 | 0 | 0 | 2 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | ATGCT others(2026): Show |
chr2 | 110118348 | 110210013 | ||
| a0004c0006 | 0/0 | 2031 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | ATGCT others(2026): Show |
chr2 | 110118348 | 110210013 | ||
| a0005c0007 | 0/0 | 2031 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | ATGCT others(2026): Show |
chr2 | 110118348 | 110210013 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2522 | 157 | 37 | 30 | 70 | 5 | 15 | NPHP1_chr2_110118348_110210013 | NPHP1 | GGTTT others(2517): Show |
chr2 | 110118348 | 110210013 |
| a0001c0002t0001 | 0/0 | 2522 | 148 | 35 | 21 | 65 | 5 | 22 | NPHP1_chr2_110118348_110210013 | NPHP1 | GGTTT others(2517): Show |
chr2 | 110118348 | 110210013 |
| a0001c0002t0002 | 0/0 | 2522 | 3 | 3 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | GGTTT others(2517): Show |
chr2 | 110118348 | 110210013 |
| a0001c0005t0001 | 0/0 | 2522 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | GGTTT others(2517): Show |
chr2 | 110118348 | 110210013 |
| a0002c0003t0001 | 0/0 | 2522 | 6 | 6 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | GGTTT others(2517): Show |
chr2 | 110118348 | 110210013 |
| a0003c0004t0001 | 0/0 | 2522 | 3 | 0 | 0 | 0 | 2 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | GGTTT others(2517): Show |
chr2 | 110118348 | 110210013 |
| a0004c0006t0001 | 0/0 | 2522 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | GGTTT others(2517): Show |
chr2 | 110118348 | 110210013 |
| a0005c0007t0001 | 0/0 | 2522 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | GGTTT others(2517): Show |
chr2 | 110118348 | 110210013 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0005 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0007 | 0/0 | 3 | 0 | 2 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0008 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0009 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0010 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0011 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0012 | 0/0 | 3 | 0 | 2 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0016 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0024 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0025 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0026 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0248 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0257 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0001t0001g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0001 | 0/0 | 5 | 0 | 0 | 4 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0002 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0003 | 0/0 | 4 | 0 | 1 | 3 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0004 | 0/0 | 4 | 0 | 4 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0006 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0013 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0014 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0017 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0018 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0019 | 0/0 | 2 | 0 | 0 | 0 | 1 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0020 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0021 | 0/0 | 2 | 0 | 0 | 0 | 1 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0022 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0095 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0139 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0268 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0001g0276 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0002g0027 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0002t0002g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0001c0005t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0002c0003t0001g0028 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0002c0003t0001g0272 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0002c0003t0001g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0002c0003t0001g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0002c0003t0001g0275 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0003c0004t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0003c0004t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0003c0004t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0004c0006t0001g0245 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| a0005c0007t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0169 | EUR | GBR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00099 | hp2 | a0001 | c0002 | t0001 | g0093 | EUR | GBR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0189 | EUR | FIN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00280 | hp2 | a0001 | c0002 | t0001 | g0019 | EUR | FIN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00323 | hp1 | a0003 | c0004 | t0001 | g0152 | EUR | FIN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0221 | EUR | FIN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0060 | EAS | CHS | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00423 | hp2 | a0001 | c0002 | t0001 | g0088 | EAS | CHS | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00438 | hp1 | a0001 | c0002 | t0001 | g0067 | EAS | CHS | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0046 | EAS | CHS | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0216 | EAS | CHS | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00597 | hp2 | a0001 | c0002 | t0001 | g0003 | EAS | CHS | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00609 | hp1 | a0001 | c0002 | t0001 | g0006 | EAS | CHS | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | CHS | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00621 | hp1 | a0001 | c0002 | t0001 | g0120 | EAS | CHS | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00621 | hp2 | a0001 | c0002 | t0001 | g0084 | EAS | CHS | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0243 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0190 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00642 | hp1 | a0001 | c0002 | t0001 | g0276 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0223 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0023 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG00741 | hp2 | a0001 | c0002 | t0001 | g0128 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01069 | hp1 | a0001 | c0002 | t0001 | g0004 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0262 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0155 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01070 | hp2 | a0001 | c0002 | t0001 | g0004 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01071 | hp1 | a0001 | c0002 | t0001 | g0004 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0012 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01081 | hp1 | a0001 | c0002 | t0001 | g0037 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01081 | hp2 | a0001 | c0002 | t0001 | g0004 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0164 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01099 | hp2 | a0001 | c0002 | t0001 | g0109 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0029 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01106 | hp2 | a0001 | c0002 | t0001 | g0138 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0257 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01109 | hp2 | a0001 | c0002 | t0001 | g0094 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01167 | hp2 | a0004 | c0006 | t0001 | g0245 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0160 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0259 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0261 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0239 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01175 | hp2 | a0001 | c0002 | t0001 | g0119 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0229 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0012 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01243 | hp1 | a0001 | c0002 | t0001 | g0034 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0263 | AMR | PUR | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0248 | AMR | CLM | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01255 | hp2 | a0001 | c0002 | t0001 | g0148 | AMR | CLM | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0197 | AMR | CLM | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01256 | hp2 | a0001 | c0002 | t0001 | g0090 | AMR | CLM | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01261 | hp1 | a0001 | c0002 | t0001 | g0107 | AMR | CLM | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0168 | AMR | CLM | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01358 | hp1 | a0001 | c0002 | t0001 | g0108 | AMR | CLM | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0167 | AMR | CLM | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01361 | hp1 | a0001 | c0002 | t0001 | g0018 | AMR | CLM | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0227 | AMR | CLM | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01515 | hp1 | a0001 | c0001 | t0001 | g0200 | EUR | IBS | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01515 | hp2 | a0001 | c0002 | t0001 | g0085 | EUR | IBS | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01884 | hp1 | a0001 | c0002 | t0001 | g0031 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01884 | hp2 | a0001 | c0002 | t0001 | g0017 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0162 | AMR | PEL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01952 | hp2 | a0001 | c0002 | t0001 | g0003 | AMR | PEL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01975 | hp1 | a0001 | c0002 | t0001 | g0126 | AMR | PEL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0265 | AMR | PEL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0260 | AMR | PEL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0163 | AMR | PEL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0161 | AMR | PEL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02004 | hp2 | a0001 | c0002 | t0001 | g0133 | AMR | PEL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02015 | hp1 | a0001 | c0002 | t0001 | g0003 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0055 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02027 | hp1 | a0001 | c0002 | t0001 | g0129 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0206 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02040 | hp2 | a0001 | c0002 | t0001 | g0124 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02055 | hp1 | a0001 | c0002 | t0001 | g0079 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0222 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02056 | hp2 | a0001 | c0002 | t0001 | g0106 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0053 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0249 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0199 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02083 | hp1 | a0001 | c0002 | t0001 | g0020 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0051 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02132 | hp2 | a0001 | c0002 | t0001 | g0125 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0026 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0232 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02165 | hp1 | a0001 | c0002 | t0001 | g0066 | EAS | CDX | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02165 | hp2 | a0001 | c0002 | t0001 | g0146 | EAS | CDX | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0256 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02257 | hp2 | a0001 | c0002 | t0001 | g0032 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02258 | hp1 | a0001 | c0002 | t0001 | g0013 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0240 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02273 | hp1 | a0001 | c0002 | t0001 | g0064 | AMR | PEL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0170 | AMR | PEL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02280 | hp2 | a0002 | c0003 | t0001 | g0272 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02451 | hp1 | a0001 | c0002 | t0002 | g0271 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02451 | hp2 | a0001 | c0002 | t0001 | g0014 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0179 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02523 | hp2 | a0001 | c0002 | t0001 | g0062 | EAS | KHV | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02572 | hp1 | a0001 | c0002 | t0001 | g0040 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0183 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0159 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02602 | hp2 | a0001 | c0002 | t0001 | g0096 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02615 | hp1 | a0001 | c0002 | t0001 | g0074 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0241 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02630 | hp1 | a0001 | c0005 | t0001 | g0039 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02630 | hp2 | a0001 | c0002 | t0001 | g0264 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02647 | hp1 | a0002 | c0003 | t0001 | g0275 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02647 | hp2 | a0001 | c0002 | t0001 | g0030 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0156 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02683 | hp2 | a0001 | c0002 | t0001 | g0080 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02698 | hp1 | a0001 | c0002 | t0001 | g0019 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0224 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02717 | hp2 | a0001 | c0002 | t0001 | g0087 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0238 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02723 | hp2 | a0001 | c0002 | t0001 | g0036 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02735 | hp1 | a0001 | c0002 | t0001 | g0001 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0188 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02738 | hp1 | a0001 | c0002 | t0001 | g0083 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0195 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0233 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02809 | hp2 | a0001 | c0002 | t0001 | g0038 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02818 | hp1 | a0001 | c0002 | t0002 | g0027 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02886 | hp1 | a0001 | c0002 | t0001 | g0033 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0255 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02895 | hp1 | a0001 | c0002 | t0001 | g0267 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02895 | hp2 | a0001 | c0002 | t0001 | g0068 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02896 | hp1 | a0001 | c0002 | t0001 | g0246 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02897 | hp1 | a0001 | c0002 | t0001 | g0247 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02897 | hp2 | a0001 | c0002 | t0001 | g0269 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0258 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0226 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02965 | hp1 | a0001 | c0002 | t0001 | g0041 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0234 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02970 | hp2 | a0001 | c0002 | t0001 | g0075 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02976 | hp1 | a0001 | c0002 | t0001 | g0017 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02976 | hp2 | a0001 | c0002 | t0001 | g0270 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0151 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03017 | hp2 | a0001 | c0002 | t0001 | g0100 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0220 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0231 | AFR | GWD | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03098 | hp1 | a0001 | c0002 | t0001 | g0013 | AFR | MSL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | MSL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03139 | hp1 | a0001 | c0002 | t0001 | g0069 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0184 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03195 | hp1 | a0001 | c0002 | t0001 | g0013 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03195 | hp2 | a0001 | c0002 | t0001 | g0076 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0237 | AFR | MSL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03209 | hp2 | a0001 | c0002 | t0001 | g0070 | AFR | MSL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03225 | hp1 | a0001 | c0002 | t0001 | g0042 | AFR | MSL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0228 | AFR | MSL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03239 | hp1 | a0001 | c0002 | t0001 | g0021 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03239 | hp2 | a0001 | c0002 | t0001 | g0050 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0158 | AFR | MSL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0230 | AFR | MSL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03492 | hp1 | a0001 | c0002 | t0001 | g0110 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03492 | hp2 | a0001 | c0002 | t0001 | g0101 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03516 | hp1 | a0001 | c0002 | t0001 | g0082 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | ESN | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03579 | hp1 | a0002 | c0003 | t0001 | g0274 | AFR | MSL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0182 | AFR | MSL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03654 | hp1 | a0001 | c0002 | t0001 | g0095 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0054 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03688 | hp1 | a0003 | c0004 | t0001 | g0153 | SAS | STU | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03688 | hp2 | a0001 | c0002 | t0001 | g0104 | SAS | STU | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03710 | hp1 | a0001 | c0002 | t0001 | g0112 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0194 | SAS | PJL | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03831 | hp1 | a0001 | c0002 | t0001 | g0078 | SAS | BEB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0175 | SAS | BEB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03927 | hp1 | a0001 | c0002 | t0001 | g0132 | SAS | BEB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0174 | SAS | BEB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG04115 | hp1 | a0001 | c0002 | t0001 | g0081 | SAS | STU | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0217 | SAS | STU | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG04184 | hp1 | a0001 | c0002 | t0001 | g0097 | SAS | BEB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG04184 | hp2 | a0001 | c0002 | t0001 | g0144 | SAS | BEB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0178 | SAS | STU | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG04199 | hp2 | a0001 | c0002 | t0001 | g0018 | SAS | STU | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0244 | SAS | STU | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG04204 | hp2 | a0001 | c0002 | t0001 | g0102 | SAS | STU | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0181 | SAS | STU | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG04228 | hp2 | a0001 | c0002 | t0001 | g0140 | SAS | STU | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0235 | AFR | YRI | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0157 | AFR | YRI | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18612 | hp1 | a0001 | c0002 | t0001 | g0266 | EAS | CHB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0254 | EAS | CHB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | CHB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0176 | EAS | CHB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0212 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18939 | hp2 | a0001 | c0002 | t0001 | g0131 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0253 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18941 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0250 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18948 | hp1 | a0001 | c0002 | t0001 | g0115 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18950 | hp2 | a0001 | c0002 | t0001 | g0136 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18951 | hp1 | a0001 | c0002 | t0001 | g0122 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18951 | hp2 | a0001 | c0002 | t0001 | g0137 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18952 | hp1 | a0001 | c0002 | t0001 | g0142 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18952 | hp2 | a0001 | c0002 | t0001 | g0121 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18954 | hp2 | a0001 | c0002 | t0001 | g0105 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18956 | hp2 | a0001 | c0002 | t0001 | g0113 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18961 | hp1 | a0001 | c0002 | t0001 | g0143 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0213 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18963 | hp1 | a0001 | c0002 | t0001 | g0003 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18964 | hp1 | a0001 | c0002 | t0001 | g0114 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0056 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18966 | hp2 | a0001 | c0002 | t0001 | g0135 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18970 | hp2 | a0001 | c0002 | t0001 | g0065 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0165 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0171 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18973 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18978 | hp1 | a0001 | c0002 | t0001 | g0091 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0059 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18979 | hp1 | a0001 | c0002 | t0001 | g0022 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18982 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18983 | hp1 | a0001 | c0002 | t0001 | g0020 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18983 | hp2 | a0001 | c0002 | t0001 | g0006 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0214 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18985 | hp2 | a0001 | c0002 | t0001 | g0071 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18986 | hp1 | a0001 | c0002 | t0001 | g0022 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0218 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18988 | hp2 | a0001 | c0002 | t0001 | g0127 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18990 | hp1 | a0005 | c0007 | t0001 | g0191 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18990 | hp2 | a0001 | c0002 | t0001 | g0123 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18991 | hp1 | a0001 | c0002 | t0001 | g0145 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18991 | hp2 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18992 | hp1 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18992 | hp2 | a0001 | c0002 | t0001 | g0048 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18993 | hp1 | a0001 | c0002 | t0001 | g0116 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18993 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18994 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19000 | hp1 | a0001 | c0002 | t0001 | g0049 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19003 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19004 | hp2 | a0001 | c0002 | t0001 | g0111 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19005 | hp1 | a0001 | c0002 | t0001 | g0092 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19005 | hp2 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19010 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0215 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0225 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0251 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19030 | hp1 | a0001 | c0002 | t0001 | g0073 | AFR | LWK | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19030 | hp2 | a0002 | c0003 | t0001 | g0028 | AFR | LWK | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0186 | AFR | LWK | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19043 | hp2 | a0001 | c0002 | t0001 | g0086 | AFR | LWK | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19054 | hp1 | a0001 | c0002 | t0001 | g0047 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19054 | hp2 | a0001 | c0002 | t0001 | g0147 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19055 | hp1 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19055 | hp2 | a0001 | c0002 | t0001 | g0118 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19058 | hp2 | a0001 | c0002 | t0001 | g0134 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0219 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19060 | hp2 | a0001 | c0002 | t0001 | g0077 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19062 | hp1 | a0001 | c0002 | t0001 | g0099 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19062 | hp2 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19064 | hp2 | a0001 | c0002 | t0001 | g0089 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19065 | hp2 | a0001 | c0002 | t0001 | g0103 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19068 | hp1 | a0001 | c0002 | t0001 | g0130 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19070 | hp1 | a0001 | c0002 | t0001 | g0072 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19070 | hp2 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19074 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19080 | hp2 | a0001 | c0002 | t0001 | g0006 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19081 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19085 | hp2 | a0001 | c0002 | t0001 | g0098 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19088 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0198 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19091 | hp2 | a0001 | c0002 | t0001 | g0141 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0242 | AFR | YRI | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | YRI | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA20129 | hp1 | a0002 | c0003 | t0001 | g0273 | AFR | ASW | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA20129 | hp2 | a0001 | c0002 | t0001 | g0014 | AFR | ASW | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA20752 | hp1 | a0003 | c0004 | t0001 | g0154 | EUR | TSI | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA20752 | hp2 | a0001 | c0002 | t0001 | g0139 | EUR | TSI | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0193 | EUR | TSI | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA20805 | hp2 | a0001 | c0002 | t0001 | g0021 | EUR | TSI | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA20905 | hp1 | a0001 | c0002 | t0001 | g0117 | SAS | GIH | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0192 | SAS | GIH | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0026 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0196 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02559 | hp1 | a0001 | c0002 | t0001 | g0268 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG02559 | hp2 | a0001 | c0002 | t0001 | g0035 | AFR | ACB | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG06807 | hp1 | a0001 | c0002 | t0002 | g0027 | AFR | USA | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| HG06807 | hp2 | a0002 | c0003 | t0001 | g0028 | AFR | USA | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0252 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0187 | AFR | USA | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0236 | AFR | USA | NPHP1_chr2_110118348_110210013 | NPHP1 | chr2 | 110118348 | 110210013 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:110129209 | G | T | 1 | a0005 | 1 | NA18990.hp1 | missense_variant | MODERATE | c.1693C>A | p.Pro565Thr | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/20 | 1738/2522 | 1693/2034 | 565/677 | chr2 | 110129209 | |||
| chr2:110163104 | A | G | 1 | a0004 | 1 | HG01167.hp2 | missense_variant | MODERATE | c.803T>C | p.Met268Thr | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 9/20 | 848/2522 | 803/2034 | 268/677 | chr2 | 110163104 | |||
| chr2:110165091 | G | A | 1 | a0002 | 6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
missense_variant | MODERATE | c.689C>T | p.Ala230Val | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 7/20 | 734/2522 | 689/2034 | 230/677 | chr2 | 110165091 | |||
| chr2:110201449 | G | T | 1 | a0003 | 3 | HG00323.hp1 HG03688.hp1 NA20752.hp1 |
missense_variant | MODERATE | c.115C>A | p.Pro39Thr | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/20 | 160/2522 | 115/2034 | 39/677 | chr2 | 110201449 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:110165126 | C | T | 3 | a0001c0002 a0001c0005 a0002c0003 |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
synonymous_variant | LOW | c.654G>A | p.Glu218Glu | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 7/20 | 699/2522 | 654/2034 | 218/677 | chr2 | 110165126 | |||
| chr2:110169992 | C | T | 1 | a0001c0005 | 1 | HG02630.hp1 | synonymous_variant | LOW | c.336G>A | p.Gly112Gly | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 5/20 | 381/2522 | 336/2034 | 112/677 | chr2 | 110169992 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:110123585 | G | C | 1 | a0001c0002t0002 | 3 | HG02451.hp1 HG02818.hp1 HG06807.hp1 |
3_prime_UTR_variant | MODIFIER | c.*206C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 20/20 | 206 | chr2 | 110123585 | ||||||
| chr2:110123760 | G | A | 1 | a0001c0002t0002 | 3 | HG02451.hp1 HG02818.hp1 HG06807.hp1 |
3_prime_UTR_variant | MODIFIER | c.*31C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 20/20 | 31 | chr2 | 110123760 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:110124093 | T | C | 1 | a0001c0001t0001g0163 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1762-30A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 19/19 | chr2 | 110124093 | |||||||
| chr2:110124159 | G | A | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1762-96C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 19/19 | chr2 | 110124159 | |||||||
| chr2:110124547 | G | A | 1 | a0001c0002t0001g0139 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1762-484C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 19/19 | chr2 | 110124547 | |||||||
| chr2:110124596 | G | A | 4 | a0001c0002t0001g0019 a0001c0002t0001g0085 a0001c0002t0001g0090 others(1): Show |
5 | HG00280.hp2 HG01256.hp2 HG01515.hp2 others(2): Show |
intron_variant | MODIFIER | c.1762-533C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 19/19 | chr2 | 110124596 | |||||||
| chr2:110124599 | C | G | 1 | a0001c0001t0001g0192 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1762-536G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 19/19 | chr2 | 110124599 | |||||||
| chr2:110125122 | A | G | 103 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(100): Show |
125 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(122): Show |
intron_variant | MODIFIER | c.1761+515T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 19/19 | chr2 | 110125122 | |||||||
| chr2:110125202 | T | C | 1 | a0001c0002t0001g0129 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1761+435A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 19/19 | chr2 | 110125202 | |||||||
| chr2:110125284 | A | AT | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1761+352dupA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 19/19 | chr2 | 110125284 | |||||||
| chr2:110126130 | A | T | 18 | a0001c0001t0001g0012 a0001c0001t0001g0248 a0001c0001t0001g0249 others(15): Show |
20 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1717-449T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110126130 | |||||||
| chr2:110126132 | A | G | 18 | a0001c0001t0001g0012 a0001c0001t0001g0248 a0001c0001t0001g0249 others(15): Show |
20 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1717-451T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110126132 | |||||||
| chr2:110126152 | G | A | 132 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(129): Show |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
intron_variant | MODIFIER | c.1717-471C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110126152 | |||||||
| chr2:110126286 | G | A | 1 | a0001c0002t0001g0050 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1717-605C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110126286 | |||||||
| chr2:110126327 | A | C | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1717-646T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110126327 | |||||||
| chr2:110126357 | G | A | 2 | a0001c0001t0001g0159 a0001c0001t0001g0175 |
2 | HG02602.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.1717-676C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110126357 | |||||||
| chr2:110126877 | A | G | 1 | a0001c0002t0001g0110 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1717-1196T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110126877 | |||||||
| chr2:110127050 | C | T | 99 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(96): Show |
120 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(117): Show |
intron_variant | MODIFIER | c.1717-1369G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110127050 | |||||||
| chr2:110127109 | C | T | 3 | a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0045 |
4 | NA18954.hp1 NA18979.hp2 NA18993.hp2 others(1): Show |
intron_variant | MODIFIER | c.1717-1428G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110127109 | |||||||
| chr2:110127404 | A | C | 1 | a0001c0001t0001g0171 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.1717-1723T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110127404 | |||||||
| chr2:110127613 | A | G | 1 | a0001c0001t0001g0189 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1716+1573T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110127613 | |||||||
| chr2:110127630 | C | A | 1 | a0001c0002t0001g0268 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1716+1556G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110127630 | |||||||
| chr2:110127684 | C | T | 1 | a0001c0002t0001g0099 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.1716+1502G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110127684 | |||||||
| chr2:110127746 | T | C | 1 | a0001c0001t0001g0060 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1716+1440A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110127746 | |||||||
| chr2:110127930 | A | T | 3 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 |
3 | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1716+1256T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110127930 | |||||||
| chr2:110128043 | A | C | 32 | a0001c0001t0001g0012 a0001c0001t0001g0151 a0001c0001t0001g0155 others(29): Show |
36 | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(33): Show |
intron_variant | MODIFIER | c.1716+1143T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110128043 | |||||||
| chr2:110128045 | A | G | 1 | a0001c0002t0001g0264 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1716+1141T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110128045 | |||||||
| chr2:110128358 | C | T | 1 | a0001c0001t0001g0263 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1716+828G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110128358 | |||||||
| chr2:110128471 | G | C | 131 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(128): Show |
156 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(153): Show |
intron_variant | MODIFIER | c.1716+715C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110128471 | |||||||
| chr2:110128487 | G | A | 1 | a0001c0001t0001g0149 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1716+699C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110128487 | |||||||
| chr2:110128565 | G | A | 111 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(108): Show |
133 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show |
intron_variant | MODIFIER | c.1716+621C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110128565 | |||||||
| chr2:110128584 | C | T | 1 | a0001c0001t0001g0188 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1716+602G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110128584 | |||||||
| chr2:110128770 | C | T | 101 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(98): Show |
112 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(109): Show |
intron_variant | MODIFIER | c.1716+416G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110128770 | |||||||
| chr2:110128779 | A | G | 133 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(130): Show |
159 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(156): Show |
intron_variant | MODIFIER | c.1716+407T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110128779 | |||||||
| chr2:110128881 | A | G | 1 | a0002c0003t0001g0275 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1716+305T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110128881 | |||||||
| chr2:110129109 | A | AGACCAGA others(1): Show |
132 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(129): Show |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
intron_variant | MODIFIER | c.1716+76_1716+77ins others(8): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 18/19 | chr2 | 110129109 | |||||||
| chr2:110129280 | A | G | 3 | a0001c0001t0001g0015 a0001c0001t0001g0044 a0001c0001t0001g0045 |
4 | NA18954.hp1 NA18979.hp2 NA18993.hp2 others(1): Show |
intron_variant | MODIFIER | c.1643-21T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110129280 | |||||||
| chr2:110129305 | A | G | 1 | a0001c0002t0001g0264 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1643-46T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110129305 | |||||||
| chr2:110129324 | A | G | 1 | a0001c0001t0001g0162 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1643-65T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110129324 | |||||||
| chr2:110129414 | G | C | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1643-155C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110129414 | |||||||
| chr2:110129561 | T | G | 18 | a0001c0001t0001g0012 a0001c0001t0001g0248 a0001c0001t0001g0249 others(15): Show |
20 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1643-302A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110129561 | |||||||
| chr2:110129646 | T | C | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1643-387A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110129646 | |||||||
| chr2:110129707 | G | A | 1 | a0001c0001t0001g0189 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1643-448C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110129707 | |||||||
| chr2:110130231 | T | C | 105 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(102): Show |
116 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.1643-972A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110130231 | |||||||
| chr2:110130561 | T | C | 1 | a0001c0001t0001g0248 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1642+1118A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110130561 | |||||||
| chr2:110131048 | T | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1642+631A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110131048 | |||||||
| chr2:110131134 | T | C | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1642+545A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110131134 | |||||||
| chr2:110131187 | A | C | 3 | a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0274 |
3 | HG02280.hp2 HG03579.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1642+492T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110131187 | |||||||
| chr2:110131291 | A | G | 1 | a0001c0002t0001g0068 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1642+388T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110131291 | |||||||
| chr2:110131482 | G | A | 1 | a0001c0002t0001g0076 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1642+197C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110131482 | |||||||
| chr2:110131531 | C | T | 111 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(108): Show |
133 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show |
intron_variant | MODIFIER | c.1642+148G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 17/19 | chr2 | 110131531 | |||||||
| chr2:110131992 | G | A | 2 | a0001c0002t0002g0027 a0001c0002t0002g0271 |
3 | HG02451.hp1 HG02818.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1530-201C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110131992 | |||||||
| chr2:110132067 | G | A | 1 | a0001c0002t0001g0120 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1530-276C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110132067 | |||||||
| chr2:110132389 | T | G | 102 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(99): Show |
123 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(120): Show |
intron_variant | MODIFIER | c.1530-598A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110132389 | |||||||
| chr2:110132420 | C | T | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1530-629G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110132420 | |||||||
| chr2:110132421 | G | A | 1 | a0001c0001t0001g0244 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1530-630C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110132421 | |||||||
| chr2:110132523 | C | T | 102 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(99): Show |
123 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(120): Show |
intron_variant | MODIFIER | c.1530-732G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110132523 | |||||||
| chr2:110132524 | G | A | 1 | a0001c0001t0001g0016 | 2 | NA18992.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.1530-733C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110132524 | |||||||
| chr2:110132583 | G | A | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1530-792C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110132583 | |||||||
| chr2:110132627 | C | T | 1 | a0001c0002t0001g0121 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.1530-836G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110132627 | |||||||
| chr2:110132680 | A | G | 1 | a0001c0001t0001g0187 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1530-889T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110132680 | |||||||
| chr2:110132732 | T | G | 1 | a0001c0002t0001g0070 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1530-941A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110132732 | |||||||
| chr2:110132757 | A | G | 1 | a0001c0002t0001g0127 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1530-966T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110132757 | |||||||
| chr2:110133182 | A | AGTC | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1530-1392_1530-139 others(7): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110133182 | |||||||
| chr2:110133183 | C | T | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1530-1392G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110133183 | |||||||
| chr2:110133477 | C | T | 22 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(19): Show |
28 | HG01069.hp1 HG01069.hp2 HG01070.hp2 others(25): Show |
intron_variant | MODIFIER | c.1530-1686G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110133477 | |||||||
| chr2:110133779 | A | AC | 132 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(129): Show |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
intron_variant | MODIFIER | c.1530-1989dupG | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110133779 | |||||||
| chr2:110133856 | A | C | 82 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 others(79): Show |
90 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(87): Show |
intron_variant | MODIFIER | c.1530-2065T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110133856 | |||||||
| chr2:110133896 | T | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1530-2105A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110133896 | |||||||
| chr2:110133944 | A | C | 1 | a0001c0001t0001g0202 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.1530-2153T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110133944 | |||||||
| chr2:110133960 | C | A | 3 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 |
3 | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1530-2169G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110133960 | |||||||
| chr2:110134088 | A | G | 1 | a0001c0002t0001g0109 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1530-2297T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110134088 | |||||||
| chr2:110134152 | T | C | 1 | a0001c0002t0001g0140 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1530-2361A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110134152 | |||||||
| chr2:110134307 | A | G | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1530-2516T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110134307 | |||||||
| chr2:110134530 | G | GA | 9 | a0001c0001t0001g0150 a0001c0001t0001g0213 a0001c0001t0001g0241 others(6): Show |
12 | HG02258.hp1 HG02451.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.1530-2740dupT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110134530 | |||||||
| chr2:110134530 | GA | G | 4 | a0001c0001t0001g0010 a0001c0001t0001g0157 a0001c0001t0001g0234 others(1): Show |
6 | HG02572.hp1 HG02717.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.1530-2740delT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110134530 | |||||||
| chr2:110134542 | A | C | 2 | a0001c0002t0001g0020 a0001c0002t0001g0120 |
3 | HG00621.hp1 HG02083.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.1530-2751T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110134542 | |||||||
| chr2:110134726 | G | T | 1 | a0001c0001t0001g0204 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.1530-2935C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110134726 | |||||||
| chr2:110134728 | G | A | 2 | a0001c0001t0001g0252 a0001c0001t0001g0253 |
2 | NA18941.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.1530-2937C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110134728 | |||||||
| chr2:110134768 | C | G | 1 | a0001c0002t0001g0148 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1530-2977G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110134768 | |||||||
| chr2:110134840 | T | C | 1 | a0001c0001t0001g0228 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1530-3049A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110134840 | |||||||
| chr2:110134959 | C | T | 2 | a0001c0001t0001g0209 a0001c0001t0001g0210 |
2 | NA18970.hp1 NA19055.hp1 |
intron_variant | MODIFIER | c.1530-3168G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110134959 | |||||||
| chr2:110135176 | A | AT | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1530-3386dupA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135176 | |||||||
| chr2:110135250 | A | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1530-3459T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135250 | |||||||
| chr2:110135333 | T | C | 268 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(265): Show |
312 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
intron_variant | MODIFIER | c.1530-3542A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135333 | |||||||
| chr2:110135337 | C | T | 1 | a0001c0001t0001g0255 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1530-3546G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135337 | |||||||
| chr2:110135346 | A | G | 136 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(133): Show |
163 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(160): Show |
intron_variant | MODIFIER | c.1530-3555T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135346 | |||||||
| chr2:110135350 | G | A | 2 | a0001c0001t0001g0213 a0001c0001t0001g0218 |
2 | NA18961.hp2 NA18986.hp2 |
intron_variant | MODIFIER | c.1530-3559C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135350 | |||||||
| chr2:110135442 | A | C | 1 | a0001c0002t0001g0078 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1530-3651T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135442 | |||||||
| chr2:110135472 | G | A | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1530-3681C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135472 | |||||||
| chr2:110135476 | C | CA | 52 | a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0045 others(49): Show |
53 | HG00423.hp2 HG00438.hp1 HG00642.hp1 others(50): Show |
intron_variant | MODIFIER | c.1530-3686dupT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135476 | |||||||
| chr2:110135476 | C | CAA | 7 | a0001c0001t0001g0241 a0001c0002t0001g0030 a0001c0002t0001g0032 others(4): Show |
7 | HG01243.hp1 HG02257.hp2 HG02602.hp2 others(4): Show |
intron_variant | MODIFIER | c.1530-3687_1530-368 others(6): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135476 | |||||||
| chr2:110135476 | CA | C | 15 | a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0002t0001g0013 others(12): Show |
18 | HG00597.hp1 HG02040.hp2 HG02132.hp2 others(15): Show |
intron_variant | MODIFIER | c.1530-3686delT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135476 | |||||||
| chr2:110135509 | G | A | 1 | a0001c0002t0001g0021 | 2 | HG03239.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.1530-3718C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135509 | |||||||
| chr2:110135521 | C | T | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1530-3730G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135521 | |||||||
| chr2:110135659 | T | A | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-3868A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135659 | |||||||
| chr2:110135681 | A | G | 1 | a0001c0002t0001g0086 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1530-3890T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135681 | |||||||
| chr2:110135930 | C | T | 1 | a0001c0001t0001g0051 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1530-4139G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135930 | |||||||
| chr2:110135959 | A | G | 2 | a0001c0002t0001g0085 a0001c0002t0001g0090 |
2 | HG01256.hp2 HG01515.hp2 |
intron_variant | MODIFIER | c.1530-4168T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110135959 | |||||||
| chr2:110136104 | C | T | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1530-4313G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110136104 | |||||||
| chr2:110136167 | G | A | 1 | a0001c0002t0001g0144 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1530-4376C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110136167 | |||||||
| chr2:110136193 | A | G | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-4402T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110136193 | |||||||
| chr2:110136202 | G | C | 136 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(133): Show |
163 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(160): Show |
intron_variant | MODIFIER | c.1530-4411C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110136202 | |||||||
| chr2:110136384 | T | C | 1 | a0001c0001t0001g0214 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1530-4593A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110136384 | |||||||
| chr2:110136418 | A | G | 103 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(100): Show |
125 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(122): Show |
intron_variant | MODIFIER | c.1530-4627T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110136418 | |||||||
| chr2:110136620 | T | C | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1530-4829A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110136620 | |||||||
| chr2:110136683 | C | G | 1 | a0001c0002t0001g0111 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.1530-4892G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110136683 | |||||||
| chr2:110136745 | C | T | 120 | a0001c0001t0001g0012 a0001c0001t0001g0248 a0001c0001t0001g0249 others(117): Show |
143 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(140): Show |
intron_variant | MODIFIER | c.1530-4954G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110136745 | |||||||
| chr2:110136856 | G | A | 1 | a0001c0001t0001g0026 | 2 | HG02109.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.1530-5065C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110136856 | |||||||
| chr2:110136860 | T | C | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1530-5069A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110136860 | |||||||
| chr2:110136979 | T | C | 1 | a0001c0002t0001g0068 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1530-5188A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110136979 | |||||||
| chr2:110137055 | C | G | 5 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 others(2): Show |
5 | HG02630.hp2 HG02895.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.1530-5264G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137055 | |||||||
| chr2:110137169 | T | C | 1 | a0001c0001t0001g0221 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1530-5378A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137169 | |||||||
| chr2:110137182 | A | T | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5391T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137182 | |||||||
| chr2:110137229 | A | T | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5438T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137229 | |||||||
| chr2:110137240 | A | T | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5449T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137240 | |||||||
| chr2:110137242 | C | A | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5451G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137242 | |||||||
| chr2:110137243 | T | C | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5452A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137243 | |||||||
| chr2:110137300 | C | A | 1 | a0001c0001t0001g0174 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1530-5509G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137300 | |||||||
| chr2:110137304 | C | A | 2 | a0001c0001t0001g0222 a0001c0001t0001g0226 |
2 | HG02055.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1530-5513G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137304 | |||||||
| chr2:110137317 | A | G | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5526T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137317 | |||||||
| chr2:110137348 | C | T | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5557G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137348 | |||||||
| chr2:110137387 | A | C | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1530-5596T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137387 | |||||||
| chr2:110137387 | A | G | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5596T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137387 | |||||||
| chr2:110137395 | G | A | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5604C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137395 | |||||||
| chr2:110137410 | G | T | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5619C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137410 | |||||||
| chr2:110137412 | T | C | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5621A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137412 | |||||||
| chr2:110137417 | T | C | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5626A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137417 | |||||||
| chr2:110137424 | A | T | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1530-5633T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137424 | |||||||
| chr2:110137444 | A | C | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1530-5653T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137444 | |||||||
| chr2:110137465 | G | A | 133 | a0001c0001t0001g0226 a0001c0002t0001g0001 a0001c0002t0001g0002 others(130): Show |
159 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(156): Show |
intron_variant | MODIFIER | c.1530-5674C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137465 | |||||||
| chr2:110137541 | A | C | 2 | a0001c0002t0002g0027 a0001c0002t0002g0271 |
3 | HG02451.hp1 HG02818.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1530-5750T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137541 | |||||||
| chr2:110137556 | C | A | 1 | a0001c0002t0001g0068 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1530-5765G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137556 | |||||||
| chr2:110137582 | G | C | 1 | a0001c0001t0001g0217 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1530-5791C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137582 | |||||||
| chr2:110137899 | A | C | 1 | a0001c0002t0001g0006 | 3 | HG00609.hp1 NA18983.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.1529+5643T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137899 | |||||||
| chr2:110137923 | C | G | 1 | a0001c0002t0001g0006 | 3 | HG00609.hp1 NA18983.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.1529+5619G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110137923 | |||||||
| chr2:110138460 | T | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1529+5082A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110138460 | |||||||
| chr2:110138653 | C | A | 1 | a0001c0001t0001g0052 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1529+4889G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110138653 | |||||||
| chr2:110138672 | C | G | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1529+4870G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110138672 | |||||||
| chr2:110138672 | C | T | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1529+4870G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110138672 | |||||||
| chr2:110138685 | C | T | 102 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(99): Show |
123 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(120): Show |
intron_variant | MODIFIER | c.1529+4857G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110138685 | |||||||
| chr2:110138718 | G | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1529+4824C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110138718 | |||||||
| chr2:110138736 | G | C | 2 | a0001c0002t0001g0267 a0001c0002t0001g0269 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1529+4806C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110138736 | |||||||
| chr2:110138770 | G | A | 1 | a0001c0002t0001g0140 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1529+4772C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110138770 | |||||||
| chr2:110138892 | T | A | 3 | a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0276 |
3 | HG00642.hp1 HG02602.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.1529+4650A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110138892 | |||||||
| chr2:110138969 | C | T | 8 | a0001c0002t0001g0013 a0001c0002t0001g0047 a0001c0002t0001g0048 others(5): Show |
11 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(8): Show |
intron_variant | MODIFIER | c.1529+4573G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110138969 | |||||||
| chr2:110139204 | T | TAC | 28 | a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0058 others(25): Show |
30 | HG00323.hp2 HG01069.hp2 HG01071.hp2 others(27): Show |
intron_variant | MODIFIER | c.1529+4336_1529+433 others(6): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110139204 | |||||||
| chr2:110139204 | T | TACAC | 4 | a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0002t0001g0013 others(1): Show |
6 | HG02258.hp1 HG02922.hp1 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.1529+4334_1529+433 others(8): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110139204 | |||||||
| chr2:110139204 | T | TACACAC | 11 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(8): Show |
13 | HG01243.hp1 HG01884.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.1529+4332_1529+433 others(10): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110139204 | |||||||
| chr2:110139204 | T | TACACACA others(1): Show |
3 | a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0005t0001g0039 |
3 | HG01081.hp1 HG02630.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1529+4330_1529+433 others(12): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110139204 | |||||||
| chr2:110139204 | TAC | T | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1529+4336_1529+433 others(6): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110139204 | |||||||
| chr2:110139204 | TACAC | T | 105 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(102): Show |
126 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(123): Show |
intron_variant | MODIFIER | c.1529+4334_1529+433 others(8): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110139204 | |||||||
| chr2:110139237 | C | T | 3 | a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 |
3 | NA18952.hp1 NA18961.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.1529+4305G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110139237 | |||||||
| chr2:110139629 | C | G | 1 | a0001c0001t0001g0184 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1529+3913G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110139629 | |||||||
| chr2:110139678 | TG | T | 4 | a0001c0001t0001g0008 a0001c0001t0001g0202 a0001c0001t0001g0203 others(1): Show |
6 | NA18941.hp2 NA18948.hp2 NA18956.hp1 others(3): Show |
intron_variant | MODIFIER | c.1529+3863delC | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110139678 | |||||||
| chr2:110139811 | G | A | 3 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 |
3 | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1529+3731C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110139811 | |||||||
| chr2:110139824 | A | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1529+3718T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110139824 | |||||||
| chr2:110139985 | G | T | 106 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(103): Show |
127 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(124): Show |
intron_variant | MODIFIER | c.1529+3557C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110139985 | |||||||
| chr2:110140038 | C | T | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1529+3504G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110140038 | |||||||
| chr2:110140058 | G | A | 1 | a0001c0001t0001g0016 | 2 | NA18992.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.1529+3484C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110140058 | |||||||
| chr2:110140104 | A | G | 2 | a0001c0002t0001g0246 a0001c0002t0001g0247 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1529+3438T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110140104 | |||||||
| chr2:110140176 | G | A | 1 | a0001c0001t0001g0196 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1529+3366C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110140176 | |||||||
| chr2:110140590 | C | T | 111 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(108): Show |
133 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show |
intron_variant | MODIFIER | c.1529+2952G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110140590 | |||||||
| chr2:110140890 | T | C | 2 | a0001c0001t0001g0256 a0001c0001t0001g0258 |
2 | HG02257.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1529+2652A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110140890 | |||||||
| chr2:110141195 | G | A | 1 | a0001c0001t0001g0229 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1529+2347C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141195 | |||||||
| chr2:110141330 | G | A | 1 | a0003c0004t0001g0154 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1529+2212C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141330 | |||||||
| chr2:110141340 | T | C | 1 | a0001c0002t0001g0116 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.1529+2202A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141340 | |||||||
| chr2:110141345 | T | C | 7 | a0001c0002t0001g0013 a0001c0002t0001g0246 a0001c0002t0001g0247 others(4): Show |
10 | HG02258.hp1 HG02451.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.1529+2197A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141345 | |||||||
| chr2:110141387 | T | C | 1 | a0001c0001t0001g0203 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1529+2155A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141387 | |||||||
| chr2:110141543 | G | A | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1529+1999C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141543 | |||||||
| chr2:110141649 | A | G | 1 | a0001c0002t0001g0093 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1529+1893T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141649 | |||||||
| chr2:110141690 | G | A | 1 | a0001c0001t0001g0236 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1529+1852C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141690 | |||||||
| chr2:110141755 | G | A | 1 | a0001c0001t0001g0189 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1529+1787C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141755 | |||||||
| chr2:110141783 | C | T | 1 | a0001c0002t0001g0076 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1529+1759G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141783 | |||||||
| chr2:110141796 | C | T | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1529+1746G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141796 | |||||||
| chr2:110141866 | G | C | 1 | a0001c0002t0001g0097 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1529+1676C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141866 | |||||||
| chr2:110141890 | G | A | 2 | a0001c0002t0001g0013 a0001c0002t0001g0270 |
4 | HG02258.hp1 HG02976.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1529+1652C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141890 | |||||||
| chr2:110141906 | G | A | 1 | a0001c0001t0001g0197 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1529+1636C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141906 | |||||||
| chr2:110141968 | GT | G | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1529+1573delA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141968 | |||||||
| chr2:110141972 | C | CA | 106 | a0001c0001t0001g0059 a0001c0001t0001g0257 a0001c0002t0001g0001 others(103): Show |
128 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(125): Show |
intron_variant | MODIFIER | c.1529+1569dupT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141972 | |||||||
| chr2:110141972 | C | CAA | 13 | a0001c0002t0001g0014 a0001c0002t0001g0031 a0001c0002t0001g0032 others(10): Show |
14 | HG01243.hp1 HG01884.hp1 HG02257.hp2 others(11): Show |
intron_variant | MODIFIER | c.1529+1568_1529+156 others(6): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141972 | |||||||
| chr2:110141978 | A | AAC | 5 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 others(2): Show |
6 | HG02451.hp1 HG02630.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.1529+1563_1529+156 others(6): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141978 | |||||||
| chr2:110141979 | A | AC | 2 | a0001c0002t0001g0013 a0001c0002t0001g0270 |
4 | HG02258.hp1 HG02976.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1529+1562_1529+156 others(5): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110141979 | |||||||
| chr2:110142194 | G | C | 1 | a0001c0002t0001g0076 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1529+1348C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110142194 | |||||||
| chr2:110142298 | T | A | 10 | a0001c0001t0001g0007 a0001c0001t0001g0160 a0001c0001t0001g0161 others(7): Show |
12 | HG01099.hp1 HG01167.hp1 HG01168.hp1 others(9): Show |
intron_variant | MODIFIER | c.1529+1244A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110142298 | |||||||
| chr2:110142437 | GCTCAAGC others(4): Show |
G | 102 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(99): Show |
123 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(120): Show |
intron_variant | MODIFIER | c.1529+1094_1529+110 others(15): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110142437 | |||||||
| chr2:110142502 | A | G | 132 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(129): Show |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
intron_variant | MODIFIER | c.1529+1040T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110142502 | |||||||
| chr2:110142519 | A | AT | 15 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(12): Show |
16 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.1529+1022dupA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110142519 | |||||||
| chr2:110142553 | T | C | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1529+989A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110142553 | |||||||
| chr2:110142686 | G | A | 1 | a0001c0001t0001g0228 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1529+856C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110142686 | |||||||
| chr2:110143055 | C | A | 132 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(129): Show |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
intron_variant | MODIFIER | c.1529+487G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110143055 | |||||||
| chr2:110143072 | A | C | 132 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(129): Show |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
intron_variant | MODIFIER | c.1529+470T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110143072 | |||||||
| chr2:110143097 | T | C | 2 | a0001c0001t0001g0249 a0001c0001t0001g0254 |
2 | HG02074.hp1 NA18612.hp2 |
intron_variant | MODIFIER | c.1529+445A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110143097 | |||||||
| chr2:110143102 | T | C | 1 | a0001c0002t0001g0115 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1529+440A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110143102 | |||||||
| chr2:110143120 | G | A | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1529+422C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110143120 | |||||||
| chr2:110143318 | G | A | 111 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(108): Show |
133 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show |
intron_variant | MODIFIER | c.1529+224C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110143318 | |||||||
| chr2:110143504 | A | T | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1529+38T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110143504 | |||||||
| chr2:110143523 | G | A | 1 | a0001c0001t0001g0223 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1529+19C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 16/19 | chr2 | 110143523 | |||||||
| chr2:110143874 | T | C | 1 | a0001c0002t0001g0105 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1430-233A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 15/19 | chr2 | 110143874 | |||||||
| chr2:110143950 | G | A | 1 | a0001c0002t0001g0081 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1430-309C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 15/19 | chr2 | 110143950 | |||||||
| chr2:110144616 | A | G | 21 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0030 others(18): Show |
25 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.1353-47T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110144616 | |||||||
| chr2:110144658 | TATACTC | T | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1353-95_1353-90del others(6): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110144658 | |||||||
| chr2:110144685 | G | A | 111 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(108): Show |
133 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show |
intron_variant | MODIFIER | c.1353-116C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110144685 | |||||||
| chr2:110144690 | T | G | 1 | a0001c0002t0001g0134 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.1353-121A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110144690 | |||||||
| chr2:110144853 | C | T | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1353-284G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110144853 | |||||||
| chr2:110144977 | G | A | 7 | a0001c0002t0001g0002 a0001c0002t0001g0084 a0001c0002t0001g0088 others(4): Show |
10 | HG00423.hp2 HG00621.hp2 NA18954.hp2 others(7): Show |
intron_variant | MODIFIER | c.1353-408C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110144977 | |||||||
| chr2:110145077 | C | T | 3 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0217 |
3 | HG01261.hp2 HG01358.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.1353-508G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110145077 | |||||||
| chr2:110145103 | C | T | 1 | a0001c0002t0001g0079 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1353-534G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110145103 | |||||||
| chr2:110145121 | C | T | 1 | a0001c0001t0001g0181 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1353-552G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110145121 | |||||||
| chr2:110145491 | T | C | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1353-922A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110145491 | |||||||
| chr2:110145510 | T | A | 1 | a0001c0002t0001g0112 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1353-941A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110145510 | |||||||
| chr2:110145695 | C | T | 1 | a0001c0002t0001g0086 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1352+1058G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110145695 | |||||||
| chr2:110145997 | A | G | 2 | a0001c0002t0001g0122 a0001c0002t0001g0137 |
2 | NA18951.hp1 NA18951.hp2 |
intron_variant | MODIFIER | c.1352+756T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110145997 | |||||||
| chr2:110146343 | G | A | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1352+410C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110146343 | |||||||
| chr2:110146606 | A | G | 1 | a0001c0002t0001g0132 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1352+147T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110146606 | |||||||
| chr2:110146623 | A | G | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1352+130T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 14/19 | chr2 | 110146623 | |||||||
| chr2:110147476 | C | T | 1 | a0001c0002t0001g0066 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1269+440G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 13/19 | chr2 | 110147476 | |||||||
| chr2:110147526 | A | G | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1269+390T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 13/19 | chr2 | 110147526 | |||||||
| chr2:110147581 | A | G | 3 | a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 |
3 | HG01884.hp1 HG02257.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.1269+335T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 13/19 | chr2 | 110147581 | |||||||
| chr2:110147642 | C | A | 132 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(129): Show |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
intron_variant | MODIFIER | c.1269+274G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 13/19 | chr2 | 110147642 | |||||||
| chr2:110147676 | T | G | 7 | a0001c0002t0001g0013 a0001c0002t0001g0246 a0001c0002t0001g0247 others(4): Show |
10 | HG02258.hp1 HG02451.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.1269+240A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 13/19 | chr2 | 110147676 | |||||||
| chr2:110147717 | G | A | 9 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0141 others(6): Show |
12 | HG00609.hp1 HG02165.hp2 HG04184.hp2 others(9): Show |
intron_variant | MODIFIER | c.1269+199C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 13/19 | chr2 | 110147717 | |||||||
| chr2:110147746 | C | T | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1269+170G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 13/19 | chr2 | 110147746 | |||||||
| chr2:110148087 | G | A | 132 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(129): Show |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
intron_variant | MODIFIER | c.1159-61C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110148087 | |||||||
| chr2:110148166 | T | A | 102 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(99): Show |
123 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(120): Show |
intron_variant | MODIFIER | c.1159-140A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110148166 | |||||||
| chr2:110148277 | T | C | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1159-251A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110148277 | |||||||
| chr2:110148330 | C | T | 132 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(129): Show |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
intron_variant | MODIFIER | c.1159-304G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110148330 | |||||||
| chr2:110148460 | T | G | 1 | a0001c0002t0001g0102 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1159-434A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110148460 | |||||||
| chr2:110148519 | T | C | 132 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(129): Show |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
intron_variant | MODIFIER | c.1159-493A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110148519 | |||||||
| chr2:110148782 | T | A | 2 | a0001c0001t0001g0252 a0001c0001t0001g0253 |
2 | NA18941.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.1159-756A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110148782 | |||||||
| chr2:110148791 | A | T | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1159-765T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110148791 | |||||||
| chr2:110148800 | C | G | 1 | a0001c0001t0001g0026 | 2 | HG02109.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.1159-774G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110148800 | |||||||
| chr2:110148838 | T | C | 132 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(129): Show |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
intron_variant | MODIFIER | c.1159-812A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110148838 | |||||||
| chr2:110149107 | C | T | 1 | a0001c0002t0001g0268 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1158+1075G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110149107 | |||||||
| chr2:110149230 | C | T | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1158+952G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110149230 | |||||||
| chr2:110149329 | A | G | 111 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(108): Show |
133 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show |
intron_variant | MODIFIER | c.1158+853T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110149329 | |||||||
| chr2:110149353 | A | G | 12 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(9): Show |
13 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.1158+829T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110149353 | |||||||
| chr2:110149364 | C | T | 1 | a0001c0001t0001g0263 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1158+818G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110149364 | |||||||
| chr2:110149365 | G | A | 1 | a0001c0001t0001g0178 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1158+817C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110149365 | |||||||
| chr2:110149442 | A | T | 1 | a0001c0001t0001g0161 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.1158+740T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110149442 | |||||||
| chr2:110149468 | C | T | 1 | a0001c0002t0001g0264 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1158+714G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110149468 | |||||||
| chr2:110149573 | T | G | 4 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(1): Show |
4 | NA18966.hp1 NA18978.hp2 NA19000.hp2 others(1): Show |
intron_variant | MODIFIER | c.1158+609A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110149573 | |||||||
| chr2:110149747 | G | A | 60 | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(57): Show |
73 | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(70): Show |
intron_variant | MODIFIER | c.1158+435C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 12/19 | chr2 | 110149747 | |||||||
| chr2:110150464 | G | T | 18 | a0001c0001t0001g0012 a0001c0001t0001g0248 a0001c0001t0001g0249 others(15): Show |
20 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1084-208C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110150464 | |||||||
| chr2:110150501 | G | A | 1 | a0001c0001t0001g0218 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.1084-245C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110150501 | |||||||
| chr2:110150636 | G | A | 16 | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0043 others(13): Show |
19 | HG00423.hp1 HG00609.hp2 HG02015.hp2 others(16): Show |
intron_variant | MODIFIER | c.1084-380C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110150636 | |||||||
| chr2:110150799 | C | T | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1084-543G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110150799 | |||||||
| chr2:110150802 | G | A | 2 | a0001c0002t0001g0118 a0001c0002t0001g0130 |
2 | NA19055.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.1084-546C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110150802 | |||||||
| chr2:110150839 | T | C | 136 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(133): Show |
163 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(160): Show |
intron_variant | MODIFIER | c.1084-583A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110150839 | |||||||
| chr2:110151113 | C | G | 18 | a0001c0001t0001g0012 a0001c0001t0001g0248 a0001c0001t0001g0249 others(15): Show |
20 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1084-857G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110151113 | |||||||
| chr2:110151168 | G | GA | 123 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(120): Show |
138 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(135): Show |
intron_variant | MODIFIER | c.1084-913dupT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110151168 | |||||||
| chr2:110151168 | GA | G | 114 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(111): Show |
136 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(133): Show |
intron_variant | MODIFIER | c.1084-913delT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110151168 | |||||||
| chr2:110151195 | A | G | 1 | a0001c0001t0001g0182 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1084-939T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110151195 | |||||||
| chr2:110151312 | A | C | 136 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(133): Show |
163 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(160): Show |
intron_variant | MODIFIER | c.1084-1056T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110151312 | |||||||
| chr2:110151422 | A | T | 1 | a0001c0001t0001g0026 | 2 | HG02109.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.1084-1166T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110151422 | |||||||
| chr2:110151902 | G | C | 1 | a0001c0002t0001g0264 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1084-1646C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110151902 | |||||||
| chr2:110152093 | G | A | 1 | a0001c0001t0001g0187 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1084-1837C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152093 | |||||||
| chr2:110152135 | A | G | 1 | a0001c0001t0001g0059 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.1084-1879T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152135 | |||||||
| chr2:110152165 | G | T | 7 | a0001c0002t0001g0013 a0001c0002t0001g0246 a0001c0002t0001g0247 others(4): Show |
10 | HG02258.hp1 HG02451.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.1084-1909C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152165 | |||||||
| chr2:110152289 | A | AT | 18 | a0001c0001t0001g0012 a0001c0001t0001g0248 a0001c0001t0001g0249 others(15): Show |
20 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1084-2034dupA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152289 | |||||||
| chr2:110152289 | AT | A | 9 | a0001c0001t0001g0009 a0001c0001t0001g0158 a0001c0001t0001g0220 others(6): Show |
11 | HG01192.hp1 HG02145.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1084-2034delA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152289 | |||||||
| chr2:110152519 | G | C | 3 | a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 |
3 | HG02559.hp1 HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1084-2263C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152519 | |||||||
| chr2:110152599 | T | TA | 28 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0059 others(25): Show |
31 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(28): Show |
intron_variant | MODIFIER | c.1084-2344dupT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152599 | |||||||
| chr2:110152599 | T | TAA | 119 | a0001c0001t0001g0250 a0001c0002t0001g0001 a0001c0002t0001g0002 others(116): Show |
144 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(141): Show |
intron_variant | MODIFIER | c.1084-2345_1084-234 others(6): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152599 | |||||||
| chr2:110152599 | T | TAAA | 7 | a0001c0002t0001g0022 a0001c0002t0001g0083 a0001c0002t0001g0084 others(4): Show |
8 | HG00621.hp2 HG02056.hp2 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.1084-2346_1084-234 others(7): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152599 | |||||||
| chr2:110152775 | C | A | 1 | a0001c0002t0001g0135 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.1084-2519G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152775 | |||||||
| chr2:110152816 | G | A | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1084-2560C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152816 | |||||||
| chr2:110152899 | G | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1084-2643C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152899 | |||||||
| chr2:110152934 | A | G | 132 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(129): Show |
158 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(155): Show |
intron_variant | MODIFIER | c.1084-2678T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110152934 | |||||||
| chr2:110153015 | C | T | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1084-2759G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110153015 | |||||||
| chr2:110153176 | A | C | 1 | a0001c0001t0001g0237 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1084-2920T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110153176 | |||||||
| chr2:110153369 | A | G | 3 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 |
3 | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1084-3113T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110153369 | |||||||
| chr2:110153553 | A | G | 1 | a0001c0002t0001g0040 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1084-3297T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110153553 | |||||||
| chr2:110153703 | C | T | 4 | a0001c0002t0001g0019 a0001c0002t0001g0085 a0001c0002t0001g0090 others(1): Show |
5 | HG00280.hp2 HG01256.hp2 HG01515.hp2 others(2): Show |
intron_variant | MODIFIER | c.1084-3447G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110153703 | |||||||
| chr2:110153709 | C | T | 3 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 |
3 | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1084-3453G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110153709 | |||||||
| chr2:110153710 | G | A | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1084-3454C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110153710 | |||||||
| chr2:110153780 | A | C | 115 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(112): Show |
138 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.1084-3524T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110153780 | |||||||
| chr2:110153939 | C | T | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1084-3683G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110153939 | |||||||
| chr2:110153983 | C | CA | 113 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(110): Show |
136 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(133): Show |
intron_variant | MODIFIER | c.1084-3728dupT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110153983 | |||||||
| chr2:110153993 | A | G | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1084-3737T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110153993 | |||||||
| chr2:110154102 | G | A | 1 | a0001c0002t0001g0080 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1084-3846C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110154102 | |||||||
| chr2:110154138 | C | T | 1 | a0001c0002t0001g0034 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1084-3882G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110154138 | |||||||
| chr2:110154211 | C | T | 3 | a0001c0001t0001g0221 a0003c0004t0001g0153 a0003c0004t0001g0154 |
3 | HG00323.hp2 HG03688.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.1084-3955G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110154211 | |||||||
| chr2:110154369 | C | T | 1 | a0001c0001t0001g0054 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1084-4113G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110154369 | |||||||
| chr2:110154871 | C | T | 1 | a0001c0001t0001g0187 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1084-4615G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110154871 | |||||||
| chr2:110154990 | C | T | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1084-4734G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110154990 | |||||||
| chr2:110155059 | C | T | 1 | a0001c0001t0001g0250 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1084-4803G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110155059 | |||||||
| chr2:110155098 | C | A | 111 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(108): Show |
133 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show |
intron_variant | MODIFIER | c.1084-4842G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110155098 | |||||||
| chr2:110155396 | C | T | 1 | a0001c0002t0001g0076 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1083+4731G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110155396 | |||||||
| chr2:110155534 | C | A | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1083+4593G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110155534 | |||||||
| chr2:110155679 | T | C | 111 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(108): Show |
133 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show |
intron_variant | MODIFIER | c.1083+4448A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110155679 | |||||||
| chr2:110155705 | C | T | 2 | a0001c0002t0001g0013 a0001c0002t0001g0270 |
4 | HG02258.hp1 HG02976.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1083+4422G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110155705 | |||||||
| chr2:110155716 | C | T | 1 | a0001c0001t0001g0239 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1083+4411G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110155716 | |||||||
| chr2:110155756 | T | C | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.1083+4371A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110155756 | |||||||
| chr2:110155909 | G | C | 115 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(112): Show |
138 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(135): Show |
intron_variant | MODIFIER | c.1083+4218C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110155909 | |||||||
| chr2:110156073 | C | CT | 114 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(111): Show |
126 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(123): Show |
intron_variant | MODIFIER | c.1083+4053dupA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110156073 | |||||||
| chr2:110156171 | C | T | 111 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(108): Show |
133 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show |
intron_variant | MODIFIER | c.1083+3956G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110156171 | |||||||
| chr2:110156182 | A | G | 1 | a0001c0001t0001g0206 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.1083+3945T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110156182 | |||||||
| chr2:110156403 | G | A | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1083+3724C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110156403 | |||||||
| chr2:110156470 | C | T | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1083+3657G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110156470 | |||||||
| chr2:110156571 | G | A | 2 | a0001c0002t0001g0267 a0001c0002t0001g0269 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1083+3556C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110156571 | |||||||
| chr2:110156780 | G | GGT | 1 | a0001c0002t0001g0004 | 4 | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.1083+3346_1083+334 others(6): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110156780 | |||||||
| chr2:110156780 | G | GT | 13 | a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0181 others(10): Show |
14 | HG01361.hp2 HG02071.hp1 HG02071.hp2 others(11): Show |
intron_variant | MODIFIER | c.1083+3346dupA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110156780 | |||||||
| chr2:110156780 | G | GTT | 94 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(91): Show |
112 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(109): Show |
intron_variant | MODIFIER | c.1083+3345_1083+334 others(6): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110156780 | |||||||
| chr2:110156780 | GT | G | 19 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0030 others(16): Show |
22 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.1083+3346delA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110156780 | |||||||
| chr2:110156926 | G | A | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1083+3201C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110156926 | |||||||
| chr2:110156975 | T | G | 1 | a0001c0002t0001g0133 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1083+3152A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110156975 | |||||||
| chr2:110157193 | A | ATAAATTT others(11): Show |
2 | a0001c0002t0001g0069 a0001c0002t0001g0073 |
2 | HG03139.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1083+2916_1083+293 others(22): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110157193 | |||||||
| chr2:110157334 | A | G | 1 | a0001c0002t0001g0084 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.1083+2793T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110157334 | |||||||
| chr2:110157345 | G | T | 3 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 |
3 | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1083+2782C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110157345 | |||||||
| chr2:110157349 | A | T | 3 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 |
3 | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1083+2778T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110157349 | |||||||
| chr2:110157748 | T | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1083+2379A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110157748 | |||||||
| chr2:110157853 | C | T | 1 | a0001c0001t0001g0026 | 2 | HG02109.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.1083+2274G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110157853 | |||||||
| chr2:110157854 | G | A | 1 | a0001c0002t0001g0105 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1083+2273C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110157854 | |||||||
| chr2:110157916 | T | C | 1 | a0001c0002t0001g0078 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.1083+2211A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110157916 | |||||||
| chr2:110158223 | G | A | 1 | a0001c0001t0001g0187 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1083+1904C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110158223 | |||||||
| chr2:110158420 | C | A | 1 | a0001c0002t0001g0090 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1083+1707G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110158420 | |||||||
| chr2:110158443 | C | T | 1 | a0001c0002t0001g0268 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1083+1684G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110158443 | |||||||
| chr2:110158482 | G | A | 268 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(265): Show |
312 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
intron_variant | MODIFIER | c.1083+1645C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110158482 | |||||||
| chr2:110158561 | G | A | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1083+1566C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110158561 | |||||||
| chr2:110158617 | A | T | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1083+1510T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110158617 | |||||||
| chr2:110158746 | A | AGTGGTTT others(14): Show |
4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.1083+1360_1083+138 others(25): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110158746 | |||||||
| chr2:110158927 | G | GC | 136 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(133): Show |
163 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(160): Show |
intron_variant | MODIFIER | c.1083+1199dupG | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110158927 | |||||||
| chr2:110158941 | C | T | 1 | a0001c0001t0001g0190 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1083+1186G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110158941 | |||||||
| chr2:110159245 | C | G | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1083+882G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110159245 | |||||||
| chr2:110159271 | G | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.1083+856C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110159271 | |||||||
| chr2:110159287 | C | A | 3 | a0001c0001t0001g0010 a0001c0001t0001g0234 a0001c0001t0001g0235 |
5 | HG02717.hp1 HG02896.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.1083+840G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110159287 | |||||||
| chr2:110159444 | T | G | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1083+683A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110159444 | |||||||
| chr2:110159902 | CT | C | 3 | a0001c0002t0001g0002 a0001c0002t0001g0091 a0001c0002t0001g0092 |
6 | NA18978.hp1 NA18994.hp1 NA19003.hp1 others(3): Show |
intron_variant | MODIFIER | c.1083+224delA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110159902 | |||||||
| chr2:110160050 | A | C | 18 | a0001c0001t0001g0012 a0001c0001t0001g0248 a0001c0001t0001g0249 others(15): Show |
20 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.1083+77T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 11/19 | chr2 | 110160050 | |||||||
| chr2:110160461 | A | AT | 136 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(133): Show |
163 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(160): Show |
intron_variant | MODIFIER | c.955-207dupA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 10/19 | chr2 | 110160461 | |||||||
| chr2:110160492 | G | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.955-237C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 10/19 | chr2 | 110160492 | |||||||
| chr2:110160594 | T | C | 106 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(103): Show |
128 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(125): Show |
intron_variant | MODIFIER | c.955-339A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 10/19 | chr2 | 110160594 | |||||||
| chr2:110160969 | C | T | 1 | a0001c0001t0001g0255 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.954+634G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 10/19 | chr2 | 110160969 | |||||||
| chr2:110161061 | G | A | 1 | a0001c0002t0001g0112 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.954+542C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 10/19 | chr2 | 110161061 | |||||||
| chr2:110161064 | G | A | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.954+539C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 10/19 | chr2 | 110161064 | |||||||
| chr2:110161077 | G | C | 1 | a0001c0001t0001g0165 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.954+526C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 10/19 | chr2 | 110161077 | |||||||
| chr2:110161301 | A | G | 1 | a0001c0002t0001g0068 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.954+302T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 10/19 | chr2 | 110161301 | |||||||
| chr2:110161464 | A | G | 105 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(102): Show |
116 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(113): Show |
intron_variant | MODIFIER | c.954+139T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 10/19 | chr2 | 110161464 | |||||||
| chr2:110161731 | A | T | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.860-34T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 9/19 | chr2 | 110161731 | |||||||
| chr2:110161744 | C | T | 102 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(99): Show |
123 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(120): Show |
intron_variant | MODIFIER | c.860-47G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 9/19 | chr2 | 110161744 | |||||||
| chr2:110161907 | T | C | 1 | a0001c0001t0001g0189 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.860-210A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 9/19 | chr2 | 110161907 | |||||||
| chr2:110161982 | T | G | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.860-285A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 9/19 | chr2 | 110161982 | |||||||
| chr2:110162025 | AAAAAC | A | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.860-333_860-329del others(5): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 9/19 | chr2 | 110162025 | |||||||
| chr2:110162128 | C | T | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.860-431G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 9/19 | chr2 | 110162128 | |||||||
| chr2:110162208 | C | T | 1 | a0001c0001t0001g0189 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.860-511G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 9/19 | chr2 | 110162208 | |||||||
| chr2:110162268 | C | G | 2 | a0001c0001t0001g0259 a0001c0001t0001g0261 |
2 | HG01168.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.860-571G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 9/19 | chr2 | 110162268 | |||||||
| chr2:110162299 | C | T | 1 | a0001c0002t0001g0070 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.860-602G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 9/19 | chr2 | 110162299 | |||||||
| chr2:110162894 | C | G | 1 | a0001c0002t0001g0068 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.859+154G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 9/19 | chr2 | 110162894 | |||||||
| chr2:110163014 | T | G | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.859+34A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 9/19 | chr2 | 110163014 | |||||||
| chr2:110163152 | C | T | 1 | a0001c0001t0001g0224 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.772-17G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110163152 | |||||||
| chr2:110163191 | T | C | 1 | a0001c0002t0001g0144 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.772-56A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110163191 | |||||||
| chr2:110163253 | G | A | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.772-118C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110163253 | |||||||
| chr2:110163289 | G | C | 3 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 |
3 | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.772-154C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110163289 | |||||||
| chr2:110163633 | A | T | 4 | a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0044 others(1): Show |
5 | NA18954.hp1 NA18979.hp2 NA18993.hp2 others(2): Show |
intron_variant | MODIFIER | c.772-498T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110163633 | |||||||
| chr2:110163683 | C | T | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.772-548G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110163683 | |||||||
| chr2:110163792 | C | G | 1 | a0001c0001t0001g0234 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.772-657G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110163792 | |||||||
| chr2:110163796 | G | A | 2 | a0001c0002t0001g0098 a0001c0002t0001g0099 |
2 | NA19062.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.772-661C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110163796 | |||||||
| chr2:110164187 | C | G | 1 | a0001c0002t0001g0119 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.771+501G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110164187 | |||||||
| chr2:110164214 | T | A | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.771+474A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110164214 | |||||||
| chr2:110164265 | G | A | 21 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0030 others(18): Show |
25 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.771+423C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110164265 | |||||||
| chr2:110164487 | C | CA | 19 | a0001c0001t0001g0023 a0001c0001t0001g0258 a0001c0002t0001g0014 others(16): Show |
21 | HG00741.hp1 HG01081.hp1 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.771+200dupT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110164487 | |||||||
| chr2:110164599 | T | C | 1 | a0001c0001t0001g0061 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.771+89A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110164599 | |||||||
| chr2:110164629 | C | T | 1 | a0001c0001t0001g0228 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.771+59G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110164629 | |||||||
| chr2:110164649 | G | A | 7 | a0001c0002t0001g0013 a0001c0002t0001g0246 a0001c0002t0001g0247 others(4): Show |
10 | HG02258.hp1 HG02451.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.771+39C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 8/19 | chr2 | 110164649 | |||||||
| chr2:110164864 | G | C | 1 | a0001c0001t0001g0188 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.729-134C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 7/19 | chr2 | 110164864 | |||||||
| chr2:110164872 | T | G | 5 | a0001c0001t0001g0025 a0001c0001t0001g0206 a0001c0001t0001g0207 others(2): Show |
6 | HG02027.hp2 HG02071.hp1 NA18939.hp1 others(3): Show |
intron_variant | MODIFIER | c.729-142A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 7/19 | chr2 | 110164872 | |||||||
| chr2:110164971 | T | C | 2 | a0001c0001t0001g0060 a0001c0001t0001g0061 |
2 | HG00423.hp1 NA19062.hp2 |
intron_variant | MODIFIER | c.728+81A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 7/19 | chr2 | 110164971 | |||||||
| chr2:110165237 | C | A | 16 | a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0022 others(13): Show |
23 | HG00609.hp1 HG02165.hp2 HG02683.hp2 others(20): Show |
intron_variant | MODIFIER | c.625-82G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110165237 | |||||||
| chr2:110165237 | C | G | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.625-82G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110165237 | |||||||
| chr2:110165484 | G | A | 99 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(96): Show |
120 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(117): Show |
intron_variant | MODIFIER | c.625-329C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110165484 | |||||||
| chr2:110165571 | A | C | 1 | a0001c0002t0001g0040 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.625-416T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110165571 | |||||||
| chr2:110165870 | T | A | 3 | a0001c0002t0001g0070 a0001c0002t0001g0075 a0001c0002t0001g0079 |
3 | HG02055.hp1 HG02970.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.625-715A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110165870 | |||||||
| chr2:110165960 | G | A | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.625-805C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110165960 | |||||||
| chr2:110166240 | A | T | 1 | a0001c0002t0001g0147 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.625-1085T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110166240 | |||||||
| chr2:110166338 | C | T | 1 | a0001c0001t0001g0208 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.625-1183G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110166338 | |||||||
| chr2:110166342 | T | A | 2 | a0001c0001t0001g0149 a0001c0001t0001g0150 |
2 | NA18988.hp1 NA18994.hp2 |
intron_variant | MODIFIER | c.625-1187A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110166342 | |||||||
| chr2:110166392 | A | ACAT | 7 | a0001c0001t0001g0009 a0001c0001t0001g0229 a0001c0001t0001g0230 others(4): Show |
9 | HG00639.hp1 HG01192.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.625-1240_625-1238d others(5): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110166392 | |||||||
| chr2:110166761 | C | T | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.625-1606G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110166761 | |||||||
| chr2:110166791 | T | C | 106 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0198 others(103): Show |
128 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(125): Show |
intron_variant | MODIFIER | c.625-1636A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110166791 | |||||||
| chr2:110166903 | T | G | 3 | a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 |
3 | HG02559.hp1 HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.624+1549A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110166903 | |||||||
| chr2:110167140 | T | C | 2 | a0001c0001t0001g0173 a0001c0001t0001g0201 |
2 | NA18963.hp2 NA19090.hp1 |
intron_variant | MODIFIER | c.624+1312A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110167140 | |||||||
| chr2:110167144 | C | T | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.624+1308G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110167144 | |||||||
| chr2:110167182 | T | C | 3 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 |
3 | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.624+1270A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110167182 | |||||||
| chr2:110167504 | G | A | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.624+948C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110167504 | |||||||
| chr2:110167541 | C | T | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.624+911G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110167541 | |||||||
| chr2:110167581 | A | G | 1 | a0001c0002t0001g0073 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.624+871T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110167581 | |||||||
| chr2:110168240 | C | T | 1 | a0001c0001t0001g0052 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.624+212G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110168240 | |||||||
| chr2:110168295 | C | T | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.624+157G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110168295 | |||||||
| chr2:110168404 | C | T | 4 | a0001c0001t0001g0010 a0001c0001t0001g0234 a0001c0001t0001g0235 others(1): Show |
6 | HG02717.hp1 HG02896.hp2 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.624+48G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110168404 | |||||||
| chr2:110168405 | G | A | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.624+47C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110168405 | |||||||
| chr2:110168405 | G | GA | 35 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0232 others(32): Show |
39 | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(36): Show |
intron_variant | MODIFIER | c.624+46dupT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 6/19 | chr2 | 110168405 | |||||||
| chr2:110168876 | C | T | 2 | a0001c0002t0001g0246 a0001c0002t0001g0247 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.523-323G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 5/19 | chr2 | 110168876 | |||||||
| chr2:110168881 | A | G | 3 | a0001c0002t0001g0021 a0001c0002t0001g0138 a0001c0002t0001g0139 |
4 | HG01106.hp2 HG03239.hp1 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.523-328T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 5/19 | chr2 | 110168881 | |||||||
| chr2:110169206 | T | C | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.522+600A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 5/19 | chr2 | 110169206 | |||||||
| chr2:110169372 | T | G | 2 | a0001c0001t0001g0249 a0001c0001t0001g0254 |
2 | HG02074.hp1 NA18612.hp2 |
intron_variant | MODIFIER | c.522+434A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 5/19 | chr2 | 110169372 | |||||||
| chr2:110170562 | C | T | 1 | a0001c0002t0001g0038 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.330-564G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110170562 | |||||||
| chr2:110170574 | A | G | 1 | a0001c0002t0001g0042 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.330-576T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110170574 | |||||||
| chr2:110170738 | C | T | 1 | a0001c0002t0001g0082 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.330-740G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110170738 | |||||||
| chr2:110170892 | G | A | 6 | a0001c0002t0001g0013 a0001c0002t0001g0246 a0001c0002t0001g0247 others(3): Show |
9 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(6): Show |
intron_variant | MODIFIER | c.330-894C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110170892 | |||||||
| chr2:110170901 | A | G | 268 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(265): Show |
312 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
intron_variant | MODIFIER | c.330-903T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110170901 | |||||||
| chr2:110171396 | C | G | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.330-1398G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110171396 | |||||||
| chr2:110171432 | C | G | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.330-1434G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110171432 | |||||||
| chr2:110171481 | A | G | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.330-1483T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110171481 | |||||||
| chr2:110171596 | G | A | 49 | a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 others(46): Show |
53 | HG00099.hp1 HG00280.hp1 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.330-1598C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110171596 | |||||||
| chr2:110171637 | AT | A | 2 | a0001c0002t0001g0013 a0001c0002t0001g0270 |
4 | HG02258.hp1 HG02976.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.330-1640delA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110171637 | |||||||
| chr2:110171664 | G | A | 1 | a0001c0001t0001g0172 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.330-1666C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110171664 | |||||||
| chr2:110171886 | T | A | 19 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(16): Show |
22 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(19): Show |
intron_variant | MODIFIER | c.330-1888A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110171886 | |||||||
| chr2:110172002 | T | C | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.330-2004A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110172002 | |||||||
| chr2:110172231 | T | C | 3 | a0001c0001t0001g0024 a0001c0001t0001g0180 a0001c0001t0001g0199 |
4 | HG02074.hp2 NA18945.hp2 NA18982.hp2 others(1): Show |
intron_variant | MODIFIER | c.330-2233A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110172231 | |||||||
| chr2:110172386 | C | T | 22 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(19): Show |
25 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.330-2388G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110172386 | |||||||
| chr2:110172387 | T | C | 151 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(148): Show |
180 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(177): Show |
intron_variant | MODIFIER | c.330-2389A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110172387 | |||||||
| chr2:110172717 | G | C | 102 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(99): Show |
123 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(120): Show |
intron_variant | MODIFIER | c.330-2719C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110172717 | |||||||
| chr2:110172738 | T | C | 3 | a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0274 |
3 | HG02280.hp2 HG03579.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.330-2740A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110172738 | |||||||
| chr2:110172835 | C | T | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.330-2837G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110172835 | |||||||
| chr2:110172962 | C | CT | 7 | a0001c0002t0001g0013 a0001c0002t0001g0017 a0001c0002t0001g0036 others(4): Show |
11 | HG01884.hp2 HG02258.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.330-2965dupA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110172962 | |||||||
| chr2:110172962 | C | CTT | 29 | a0001c0001t0001g0026 a0001c0001t0001g0255 a0001c0001t0001g0256 others(26): Show |
32 | HG01081.hp1 HG01109.hp1 HG01167.hp2 others(29): Show |
intron_variant | MODIFIER | c.330-2966_330-2965d others(4): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110172962 | |||||||
| chr2:110172962 | C | CTTT | 11 | a0001c0001t0001g0012 a0001c0001t0001g0248 a0001c0001t0001g0249 others(8): Show |
13 | HG01069.hp2 HG01071.hp2 HG01168.hp2 others(10): Show |
intron_variant | MODIFIER | c.330-2967_330-2965d others(5): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110172962 | |||||||
| chr2:110173038 | A | C | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.330-3040T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110173038 | |||||||
| chr2:110173051 | C | T | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.330-3053G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110173051 | |||||||
| chr2:110173076 | C | T | 1 | a0001c0001t0001g0250 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.330-3078G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110173076 | |||||||
| chr2:110173083 | C | T | 1 | a0001c0002t0001g0084 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.330-3085G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110173083 | |||||||
| chr2:110173175 | C | A | 1 | a0001c0002t0001g0264 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.330-3177G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110173175 | |||||||
| chr2:110173202 | C | T | 1 | a0001c0001t0001g0180 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.330-3204G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110173202 | |||||||
| chr2:110173217 | G | A | 1 | a0001c0002t0001g0081 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.330-3219C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110173217 | |||||||
| chr2:110173429 | T | C | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.330-3431A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110173429 | |||||||
| chr2:110173534 | T | C | 2 | a0001c0002t0001g0246 a0001c0002t0001g0247 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.330-3536A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110173534 | |||||||
| chr2:110173811 | T | A | 1 | a0001c0002t0001g0115 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.330-3813A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110173811 | |||||||
| chr2:110173909 | T | C | 151 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(148): Show |
180 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(177): Show |
intron_variant | MODIFIER | c.330-3911A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110173909 | |||||||
| chr2:110174153 | G | A | 1 | a0001c0002t0001g0140 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.330-4155C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110174153 | |||||||
| chr2:110174252 | A | G | 1 | a0001c0002t0001g0065 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.329+4171T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110174252 | |||||||
| chr2:110174698 | C | T | 5 | a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0044 others(2): Show |
6 | HG01167.hp2 NA18954.hp1 NA18979.hp2 others(3): Show |
intron_variant | MODIFIER | c.329+3725G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110174698 | |||||||
| chr2:110174817 | CT | C | 37 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(34): Show |
44 | HG01071.hp2 HG01081.hp1 HG01109.hp1 others(41): Show |
intron_variant | MODIFIER | c.329+3605delA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110174817 | |||||||
| chr2:110174988 | A | G | 1 | a0001c0002t0001g0076 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.329+3435T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110174988 | |||||||
| chr2:110175098 | T | G | 99 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(96): Show |
120 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(117): Show |
intron_variant | MODIFIER | c.329+3325A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110175098 | |||||||
| chr2:110175296 | G | A | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.329+3127C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110175296 | |||||||
| chr2:110175508 | C | T | 1 | a0001c0001t0001g0207 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.329+2915G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110175508 | |||||||
| chr2:110175804 | TTCTC | T | 40 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(37): Show |
47 | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(44): Show |
intron_variant | MODIFIER | c.329+2615_329+2618d others(6): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110175804 | |||||||
| chr2:110176040 | AT | A | 102 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(99): Show |
123 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(120): Show |
intron_variant | MODIFIER | c.329+2382delA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110176040 | |||||||
| chr2:110176066 | C | A | 5 | a0001c0001t0001g0009 a0001c0001t0001g0231 a0001c0001t0001g0232 others(2): Show |
7 | HG00639.hp1 HG02145.hp2 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.329+2357G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110176066 | |||||||
| chr2:110176229 | T | C | 1 | a0001c0002t0001g0134 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.329+2194A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110176229 | |||||||
| chr2:110176298 | T | C | 1 | a0002c0003t0001g0275 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.329+2125A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110176298 | |||||||
| chr2:110176690 | T | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.329+1733A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110176690 | |||||||
| chr2:110176726 | C | A | 3 | a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 |
3 | HG01168.hp2 HG01169.hp1 HG01981.hp1 |
intron_variant | MODIFIER | c.329+1697G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110176726 | |||||||
| chr2:110176871 | T | A | 22 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(19): Show |
25 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.329+1552A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110176871 | |||||||
| chr2:110176900 | G | T | 1 | a0001c0002t0001g0118 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.329+1523C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110176900 | |||||||
| chr2:110177146 | A | G | 65 | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(62): Show |
78 | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(75): Show |
intron_variant | MODIFIER | c.329+1277T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110177146 | |||||||
| chr2:110177326 | T | A | 1 | a0003c0004t0001g0154 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.329+1097A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110177326 | |||||||
| chr2:110177744 | A | AT | 38 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(35): Show |
45 | HG01071.hp2 HG01081.hp1 HG01109.hp1 others(42): Show |
intron_variant | MODIFIER | c.329+678dupA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110177744 | |||||||
| chr2:110177781 | G | A | 2 | a0001c0002t0001g0019 a0001c0002t0001g0100 |
3 | HG00280.hp2 HG02698.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.329+642C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110177781 | |||||||
| chr2:110177797 | A | G | 1 | a0001c0001t0001g0179 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.329+626T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110177797 | |||||||
| chr2:110177889 | C | T | 1 | a0001c0001t0001g0160 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.329+534G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110177889 | |||||||
| chr2:110178133 | T | A | 1 | a0001c0002t0001g0110 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.329+290A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110178133 | |||||||
| chr2:110178223 | C | A | 1 | a0001c0002t0001g0264 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.329+200G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110178223 | |||||||
| chr2:110178262 | A | G | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.329+161T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110178262 | |||||||
| chr2:110178284 | C | A | 2 | a0001c0002t0001g0013 a0001c0002t0001g0270 |
4 | HG02258.hp1 HG02976.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.329+139G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110178284 | |||||||
| chr2:110178290 | A | G | 102 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(99): Show |
123 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(120): Show |
intron_variant | MODIFIER | c.329+133T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110178290 | |||||||
| chr2:110178335 | A | C | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.329+88T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110178335 | |||||||
| chr2:110178347 | G | A | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.329+76C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 4/19 | chr2 | 110178347 | |||||||
| chr2:110178692 | T | C | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.205-145A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 3/19 | chr2 | 110178692 | |||||||
| chr2:110179149 | G | GA | 148 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0059 others(145): Show |
177 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(174): Show |
intron_variant | MODIFIER | c.204+474dupT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 3/19 | chr2 | 110179149 | |||||||
| chr2:110179231 | C | T | 1 | a0001c0002t0001g0137 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.204+393G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 3/19 | chr2 | 110179231 | |||||||
| chr2:110179524 | C | T | 40 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(37): Show |
47 | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(44): Show |
intron_variant | MODIFIER | c.204+100G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 3/19 | chr2 | 110179524 | |||||||
| chr2:110179849 | A | T | 1 | a0001c0002t0001g0117 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.144-165T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110179849 | |||||||
| chr2:110179982 | C | T | 1 | a0001c0002t0001g0116 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.144-298G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110179982 | |||||||
| chr2:110180056 | A | T | 1 | a0001c0002t0001g0080 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.144-372T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110180056 | |||||||
| chr2:110180271 | A | G | 1 | a0001c0002t0001g0002 | 4 | NA18994.hp1 NA19003.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.144-587T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110180271 | |||||||
| chr2:110180388 | T | A | 2 | a0001c0002t0002g0027 a0001c0002t0002g0271 |
3 | HG02451.hp1 HG02818.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.144-704A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110180388 | |||||||
| chr2:110180448 | C | CT | 94 | a0001c0001t0001g0007 a0001c0001t0001g0056 a0001c0001t0001g0060 others(91): Show |
118 | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(115): Show |
intron_variant | MODIFIER | c.144-765dupA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110180448 | |||||||
| chr2:110180448 | C | CTT | 16 | a0001c0001t0001g0057 a0001c0002t0001g0071 a0001c0002t0001g0077 others(13): Show |
16 | HG01261.hp1 HG01358.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.144-766_144-765dup others(2): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110180448 | |||||||
| chr2:110180448 | CT | C | 27 | a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0169 others(24): Show |
33 | HG00099.hp1 HG01515.hp1 HG02071.hp1 others(30): Show |
intron_variant | MODIFIER | c.144-765delA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110180448 | |||||||
| chr2:110180448 | CTT | C | 6 | a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0040 others(3): Show |
6 | HG01243.hp1 HG02559.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.144-766_144-765del others(2): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110180448 | |||||||
| chr2:110180448 | CTTTTTTT others(1): Show |
C | 18 | a0001c0001t0001g0012 a0001c0001t0001g0248 a0001c0001t0001g0249 others(15): Show |
20 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.144-772_144-765del others(8): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110180448 | |||||||
| chr2:110180460 | T | G | 3 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 |
3 | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.144-776A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110180460 | |||||||
| chr2:110181137 | G | A | 4 | a0001c0001t0001g0008 a0001c0001t0001g0202 a0001c0001t0001g0203 others(1): Show |
6 | NA18941.hp2 NA18948.hp2 NA18956.hp1 others(3): Show |
intron_variant | MODIFIER | c.144-1453C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110181137 | |||||||
| chr2:110181334 | G | A | 1 | a0001c0001t0001g0204 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.144-1650C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110181334 | |||||||
| chr2:110181372 | A | G | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.144-1688T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110181372 | |||||||
| chr2:110181613 | T | C | 268 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(265): Show |
312 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
intron_variant | MODIFIER | c.144-1929A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110181613 | |||||||
| chr2:110181621 | A | C | 1 | a0001c0001t0001g0206 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.144-1937T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110181621 | |||||||
| chr2:110181687 | T | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.144-2003A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110181687 | |||||||
| chr2:110181840 | G | C | 2 | a0001c0002t0002g0027 a0001c0002t0002g0271 |
3 | HG02451.hp1 HG02818.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.144-2156C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110181840 | |||||||
| chr2:110181911 | G | C | 1 | a0001c0001t0001g0205 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.144-2227C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110181911 | |||||||
| chr2:110182018 | G | A | 107 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(104): Show |
129 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(126): Show |
intron_variant | MODIFIER | c.144-2334C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110182018 | |||||||
| chr2:110182038 | G | A | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.144-2354C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110182038 | |||||||
| chr2:110182067 | A | G | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.144-2383T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110182067 | |||||||
| chr2:110182071 | G | A | 109 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(106): Show |
120 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(117): Show |
intron_variant | MODIFIER | c.144-2387C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110182071 | |||||||
| chr2:110182160 | T | A | 11 | a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0172 others(8): Show |
13 | HG02027.hp2 HG02071.hp1 NA18939.hp1 others(10): Show |
intron_variant | MODIFIER | c.144-2476A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110182160 | |||||||
| chr2:110182161 | T | C | 26 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(23): Show |
32 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(29): Show |
intron_variant | MODIFIER | c.144-2477A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110182161 | |||||||
| chr2:110182291 | G | T | 1 | a0001c0001t0001g0176 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.144-2607C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110182291 | |||||||
| chr2:110182311 | A | G | 1 | a0001c0001t0001g0237 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.144-2627T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110182311 | |||||||
| chr2:110182466 | C | T | 1 | a0001c0001t0001g0170 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.144-2782G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110182466 | |||||||
| chr2:110182902 | G | A | 1 | a0001c0001t0001g0213 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.144-3218C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110182902 | |||||||
| chr2:110183031 | A | T | 98 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(95): Show |
119 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(116): Show |
intron_variant | MODIFIER | c.144-3347T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183031 | |||||||
| chr2:110183278 | T | C | 1 | a0001c0002t0001g0035 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.144-3594A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183278 | |||||||
| chr2:110183285 | C | T | 1 | a0001c0002t0001g0073 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.144-3601G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183285 | |||||||
| chr2:110183293 | G | A | 9 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0141 others(6): Show |
12 | HG00609.hp1 HG02165.hp2 HG04184.hp2 others(9): Show |
intron_variant | MODIFIER | c.144-3609C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183293 | |||||||
| chr2:110183314 | C | A | 1 | a0001c0001t0001g0214 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.144-3630G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183314 | |||||||
| chr2:110183386 | A | C | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.144-3702T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183386 | |||||||
| chr2:110183402 | G | A | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.144-3718C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183402 | |||||||
| chr2:110183422 | G | A | 44 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0026 others(41): Show |
53 | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(50): Show |
intron_variant | MODIFIER | c.144-3738C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183422 | |||||||
| chr2:110183460 | C | T | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.144-3776G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183460 | |||||||
| chr2:110183624 | C | T | 1 | a0001c0001t0001g0008 | 3 | NA18941.hp2 NA18948.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.144-3940G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183624 | |||||||
| chr2:110183780 | G | T | 2 | a0001c0002t0001g0107 a0001c0002t0001g0108 |
2 | HG01261.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.144-4096C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183780 | |||||||
| chr2:110183900 | C | T | 1 | a0001c0002t0001g0076 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.144-4216G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183900 | |||||||
| chr2:110183973 | A | G | 1 | a0001c0001t0001g0051 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.144-4289T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110183973 | |||||||
| chr2:110184056 | G | A | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.144-4372C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110184056 | |||||||
| chr2:110184068 | G | A | 22 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(19): Show |
25 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.144-4384C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110184068 | |||||||
| chr2:110184416 | C | A | 2 | a0001c0002t0001g0101 a0001c0002t0001g0102 |
2 | HG03492.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.144-4732G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110184416 | |||||||
| chr2:110184573 | G | A | 73 | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(70): Show |
87 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(84): Show |
intron_variant | MODIFIER | c.144-4889C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110184573 | |||||||
| chr2:110184619 | G | C | 26 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(23): Show |
32 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(29): Show |
intron_variant | MODIFIER | c.144-4935C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110184619 | |||||||
| chr2:110184754 | A | T | 1 | a0001c0002t0001g0036 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.144-5070T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110184754 | |||||||
| chr2:110184905 | A | G | 2 | a0001c0002t0001g0013 a0001c0002t0001g0270 |
4 | HG02258.hp1 HG02976.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.144-5221T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110184905 | |||||||
| chr2:110184919 | G | A | 98 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(95): Show |
119 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(116): Show |
intron_variant | MODIFIER | c.144-5235C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110184919 | |||||||
| chr2:110184928 | A | AAGTCAGA others(11): Show |
1 | a0001c0002t0001g0138 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.144-5262_144-5245d others(20): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110184928 | |||||||
| chr2:110184939 | G | A | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.144-5255C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110184939 | |||||||
| chr2:110184970 | G | A | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.144-5286C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110184970 | |||||||
| chr2:110185079 | A | G | 147 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(144): Show |
176 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(173): Show |
intron_variant | MODIFIER | c.144-5395T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110185079 | |||||||
| chr2:110185101 | G | T | 3 | a0001c0002t0001g0014 a0001c0002t0001g0034 a0001c0002t0001g0035 |
4 | HG01243.hp1 HG02451.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.144-5417C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110185101 | |||||||
| chr2:110185117 | T | C | 147 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(144): Show |
176 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(173): Show |
intron_variant | MODIFIER | c.144-5433A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110185117 | |||||||
| chr2:110185239 | G | C | 147 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(144): Show |
176 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(173): Show |
intron_variant | MODIFIER | c.144-5555C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110185239 | |||||||
| chr2:110185343 | C | A | 1 | a0001c0001t0001g0166 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.144-5659G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110185343 | |||||||
| chr2:110185379 | C | T | 3 | a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 |
3 | NA18952.hp1 NA18961.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.144-5695G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110185379 | |||||||
| chr2:110185641 | T | A | 2 | a0001c0002t0001g0071 a0001c0002t0001g0072 |
2 | NA18985.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.144-5957A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110185641 | |||||||
| chr2:110186110 | C | T | 1 | a0001c0002t0001g0075 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.144-6426G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110186110 | |||||||
| chr2:110186111 | G | A | 1 | a0001c0002t0001g0103 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.144-6427C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110186111 | |||||||
| chr2:110186144 | A | G | 3 | a0001c0001t0001g0159 a0001c0001t0001g0175 a0001c0001t0001g0244 |
3 | HG02602.hp1 HG03831.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.144-6460T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110186144 | |||||||
| chr2:110186294 | G | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.144-6610C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110186294 | |||||||
| chr2:110186298 | G | A | 3 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 |
3 | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.144-6614C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110186298 | |||||||
| chr2:110186498 | C | T | 1 | a0001c0001t0001g0236 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.144-6814G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110186498 | |||||||
| chr2:110186523 | G | C | 2 | a0001c0002t0001g0013 a0001c0002t0001g0270 |
4 | HG02258.hp1 HG02976.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.144-6839C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110186523 | |||||||
| chr2:110186609 | G | A | 1 | a0001c0002t0001g0104 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.144-6925C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110186609 | |||||||
| chr2:110186618 | C | T | 1 | a0001c0002t0001g0112 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.144-6934G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110186618 | |||||||
| chr2:110186853 | A | G | 107 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(104): Show |
129 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(126): Show |
intron_variant | MODIFIER | c.144-7169T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110186853 | |||||||
| chr2:110187024 | T | C | 107 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(104): Show |
129 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(126): Show |
intron_variant | MODIFIER | c.144-7340A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110187024 | |||||||
| chr2:110187223 | T | C | 1 | a0001c0001t0001g0215 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.144-7539A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110187223 | |||||||
| chr2:110187290 | A | G | 1 | a0001c0002t0001g0111 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.144-7606T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110187290 | |||||||
| chr2:110187293 | G | C | 1 | a0002c0003t0001g0275 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.144-7609C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110187293 | |||||||
| chr2:110187374 | G | C | 1 | a0001c0001t0001g0174 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.144-7690C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110187374 | |||||||
| chr2:110187562 | T | G | 98 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(95): Show |
119 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(116): Show |
intron_variant | MODIFIER | c.144-7878A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110187562 | |||||||
| chr2:110187574 | T | C | 18 | a0001c0001t0001g0012 a0001c0001t0001g0248 a0001c0001t0001g0249 others(15): Show |
20 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(17): Show |
intron_variant | MODIFIER | c.144-7890A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110187574 | |||||||
| chr2:110187679 | C | T | 1 | a0001c0001t0001g0237 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.144-7995G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110187679 | |||||||
| chr2:110187753 | T | A | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.144-8069A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110187753 | |||||||
| chr2:110187872 | T | C | 147 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(144): Show |
176 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(173): Show |
intron_variant | MODIFIER | c.144-8188A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110187872 | |||||||
| chr2:110187909 | CA | C | 98 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(95): Show |
119 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(116): Show |
intron_variant | MODIFIER | c.144-8226delT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110187909 | |||||||
| chr2:110188045 | C | T | 1 | a0002c0003t0001g0272 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.144-8361G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110188045 | |||||||
| chr2:110188266 | C | T | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.144-8582G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110188266 | |||||||
| chr2:110188372 | C | G | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.144-8688G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110188372 | |||||||
| chr2:110188612 | T | A | 107 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(104): Show |
129 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(126): Show |
intron_variant | MODIFIER | c.144-8928A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110188612 | |||||||
| chr2:110188726 | C | A | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.144-9042G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110188726 | |||||||
| chr2:110189189 | A | C | 1 | a0001c0002t0001g0110 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.144-9505T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110189189 | |||||||
| chr2:110189351 | G | A | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.144-9667C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110189351 | |||||||
| chr2:110189415 | G | A | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.144-9731C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110189415 | |||||||
| chr2:110189452 | A | G | 26 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(23): Show |
32 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(29): Show |
intron_variant | MODIFIER | c.144-9768T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110189452 | |||||||
| chr2:110189481 | G | A | 1 | a0001c0001t0001g0216 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.144-9797C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110189481 | |||||||
| chr2:110189565 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.144-9881C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110189565 | |||||||
| chr2:110190218 | C | G | 1 | a0001c0002t0001g0106 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.144-10534G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190218 | |||||||
| chr2:110190222 | C | T | 1 | a0001c0001t0001g0174 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.144-10538G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190222 | |||||||
| chr2:110190285 | T | C | 257 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(254): Show |
297 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(294): Show |
intron_variant | MODIFIER | c.144-10601A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190285 | |||||||
| chr2:110190364 | C | T | 40 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(37): Show |
47 | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(44): Show |
intron_variant | MODIFIER | c.144-10680G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190364 | |||||||
| chr2:110190365 | G | A | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.144-10681C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190365 | |||||||
| chr2:110190377 | G | A | 1 | a0001c0001t0001g0263 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.144-10693C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190377 | |||||||
| chr2:110190378 | C | T | 1 | a0001c0001t0001g0051 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.144-10694G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190378 | |||||||
| chr2:110190500 | G | A | 1 | a0001c0002t0001g0042 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.144-10816C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190500 | |||||||
| chr2:110190517 | G | A | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.144-10833C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190517 | |||||||
| chr2:110190542 | C | T | 1 | a0001c0001t0001g0056 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.144-10858G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190542 | |||||||
| chr2:110190543 | G | A | 1 | a0001c0001t0001g0218 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.144-10859C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190543 | |||||||
| chr2:110190720 | G | A | 3 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0172 |
3 | HG00423.hp1 NA18955.hp2 NA19062.hp2 |
intron_variant | MODIFIER | c.143+10701C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190720 | |||||||
| chr2:110190856 | A | G | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.143+10565T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190856 | |||||||
| chr2:110190861 | A | C | 99 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(96): Show |
120 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(117): Show |
intron_variant | MODIFIER | c.143+10560T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110190861 | |||||||
| chr2:110191008 | T | C | 1 | a0001c0001t0001g0219 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.143+10413A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110191008 | |||||||
| chr2:110191025 | C | T | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.143+10396G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110191025 | |||||||
| chr2:110191035 | G | A | 6 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(3): Show |
6 | HG00423.hp1 NA18966.hp1 NA18978.hp2 others(3): Show |
intron_variant | MODIFIER | c.143+10386C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110191035 | |||||||
| chr2:110191187 | C | T | 1 | a0001c0001t0001g0236 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.143+10234G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110191187 | |||||||
| chr2:110191370 | G | A | 2 | a0001c0002t0001g0136 a0001c0002t0001g0137 |
2 | NA18950.hp2 NA18951.hp2 |
intron_variant | MODIFIER | c.143+10051C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110191370 | |||||||
| chr2:110191398 | C | T | 107 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(104): Show |
129 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(126): Show |
intron_variant | MODIFIER | c.143+10023G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110191398 | |||||||
| chr2:110191469 | A | T | 1 | a0001c0001t0001g0026 | 2 | HG02109.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.143+9952T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110191469 | |||||||
| chr2:110191479 | G | A | 1 | a0001c0001t0001g0220 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.143+9942C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110191479 | |||||||
| chr2:110191578 | G | A | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.143+9843C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110191578 | |||||||
| chr2:110191724 | G | A | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.143+9697C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110191724 | |||||||
| chr2:110191917 | CA | C | 98 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(95): Show |
119 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(116): Show |
intron_variant | MODIFIER | c.143+9503delT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110191917 | |||||||
| chr2:110192047 | G | A | 148 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0227 others(145): Show |
177 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(174): Show |
intron_variant | MODIFIER | c.143+9374C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192047 | |||||||
| chr2:110192132 | C | T | 3 | a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0264 |
3 | HG02630.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.143+9289G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192132 | |||||||
| chr2:110192173 | T | G | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.143+9248A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192173 | |||||||
| chr2:110192194 | T | C | 147 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(144): Show |
176 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(173): Show |
intron_variant | MODIFIER | c.143+9227A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192194 | |||||||
| chr2:110192233 | C | T | 1 | a0001c0001t0001g0173 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.143+9188G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192233 | |||||||
| chr2:110192234 | G | A | 1 | a0001c0002t0001g0022 | 2 | NA18979.hp1 NA18986.hp1 |
intron_variant | MODIFIER | c.143+9187C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192234 | |||||||
| chr2:110192284 | A | G | 2 | a0001c0002t0001g0017 a0001c0002t0001g0074 |
3 | HG01884.hp2 HG02615.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.143+9137T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192284 | |||||||
| chr2:110192465 | T | G | 1 | a0004c0006t0001g0245 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.143+8956A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192465 | |||||||
| chr2:110192479 | C | G | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.143+8942G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192479 | |||||||
| chr2:110192493 | A | C | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.143+8928T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192493 | |||||||
| chr2:110192505 | T | A | 1 | a0001c0001t0001g0226 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.143+8916A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192505 | |||||||
| chr2:110192698 | A | T | 5 | a0001c0001t0001g0172 a0001c0002t0001g0047 a0001c0002t0001g0048 others(2): Show |
5 | HG03239.hp2 NA18955.hp2 NA18992.hp2 others(2): Show |
intron_variant | MODIFIER | c.143+8723T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192698 | |||||||
| chr2:110192883 | C | A | 1 | a0001c0002t0001g0105 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.143+8538G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110192883 | |||||||
| chr2:110193074 | G | C | 3 | a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 |
3 | HG02559.hp1 HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.143+8347C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193074 | |||||||
| chr2:110193138 | T | C | 4 | a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 others(1): Show |
4 | HG00323.hp2 HG00642.hp2 HG02055.hp2 others(1): Show |
intron_variant | MODIFIER | c.143+8283A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193138 | |||||||
| chr2:110193250 | T | C | 1 | a0001c0002t0001g0106 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.143+8171A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193250 | |||||||
| chr2:110193404 | CAAAG | C | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.143+8013_143+8016d others(6): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193404 | |||||||
| chr2:110193413 | C | T | 108 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(105): Show |
119 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(116): Show |
intron_variant | MODIFIER | c.143+8008G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193413 | |||||||
| chr2:110193447 | G | T | 1 | a0001c0002t0001g0073 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.143+7974C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193447 | |||||||
| chr2:110193460 | T | C | 22 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(19): Show |
25 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.143+7961A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193460 | |||||||
| chr2:110193547 | T | C | 151 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(148): Show |
180 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(177): Show |
intron_variant | MODIFIER | c.143+7874A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193547 | |||||||
| chr2:110193818 | A | C | 268 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(265): Show |
312 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
intron_variant | MODIFIER | c.143+7603T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193818 | |||||||
| chr2:110193842 | G | T | 1 | a0001c0001t0001g0171 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.143+7579C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193842 | |||||||
| chr2:110193859 | A | T | 3 | a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 |
3 | HG01099.hp2 HG01261.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.143+7562T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193859 | |||||||
| chr2:110193902 | T | C | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.143+7519A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193902 | |||||||
| chr2:110193910 | G | C | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.143+7511C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193910 | |||||||
| chr2:110193959 | C | T | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.143+7462G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110193959 | |||||||
| chr2:110194139 | G | C | 147 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(144): Show |
176 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(173): Show |
intron_variant | MODIFIER | c.143+7282C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194139 | |||||||
| chr2:110194255 | G | A | 42 | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0020 others(39): Show |
50 | HG00597.hp2 HG00621.hp1 HG00741.hp2 others(47): Show |
intron_variant | MODIFIER | c.143+7166C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194255 | |||||||
| chr2:110194284 | A | G | 1 | a0001c0001t0001g0248 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.143+7137T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194284 | |||||||
| chr2:110194375 | A | C | 1 | a0001c0001t0001g0228 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.143+7046T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194375 | |||||||
| chr2:110194422 | T | G | 3 | a0001c0002t0001g0021 a0001c0002t0001g0138 a0001c0002t0001g0139 |
4 | HG01106.hp2 HG03239.hp1 NA20752.hp2 others(1): Show |
intron_variant | MODIFIER | c.143+6999A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194422 | |||||||
| chr2:110194427 | G | A | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.143+6994C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194427 | |||||||
| chr2:110194502 | G | A | 2 | a0001c0002t0001g0246 a0001c0002t0001g0247 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.143+6919C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194502 | |||||||
| chr2:110194604 | C | T | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.143+6817G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194604 | |||||||
| chr2:110194635 | G | C | 1 | a0001c0002t0001g0140 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.143+6786C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194635 | |||||||
| chr2:110194644 | C | A | 1 | a0001c0002t0001g0140 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.143+6777G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194644 | |||||||
| chr2:110194660 | T | G | 1 | a0001c0002t0001g0140 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.143+6761A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194660 | |||||||
| chr2:110194793 | A | G | 22 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(19): Show |
25 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.143+6628T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194793 | |||||||
| chr2:110194909 | CAT | C | 98 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(95): Show |
119 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(116): Show |
intron_variant | MODIFIER | c.143+6510_143+6511d others(4): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194909 | |||||||
| chr2:110194928 | G | C | 107 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(104): Show |
129 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(126): Show |
intron_variant | MODIFIER | c.143+6493C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194928 | |||||||
| chr2:110194939 | CT | C | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.143+6481delA | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194939 | |||||||
| chr2:110194959 | C | T | 1 | a0001c0002t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.143+6462G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194959 | |||||||
| chr2:110194988 | G | T | 2 | a0001c0002t0001g0246 a0001c0002t0001g0247 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.143+6433C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110194988 | |||||||
| chr2:110195043 | C | G | 1 | a0001c0001t0001g0169 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.143+6378G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110195043 | |||||||
| chr2:110195356 | T | C | 1 | a0001c0002t0001g0050 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.143+6065A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110195356 | |||||||
| chr2:110195361 | A | G | 2 | a0001c0002t0001g0071 a0001c0002t0001g0072 |
2 | NA18985.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.143+6060T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110195361 | |||||||
| chr2:110195488 | C | T | 22 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(19): Show |
25 | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.143+5933G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110195488 | |||||||
| chr2:110195514 | C | G | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.143+5907G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110195514 | |||||||
| chr2:110195578 | C | A | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.143+5843G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110195578 | |||||||
| chr2:110195649 | A | G | 1 | a0003c0004t0001g0152 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.143+5772T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110195649 | |||||||
| chr2:110195941 | G | A | 2 | a0001c0001t0001g0046 a0001c0001t0001g0225 |
2 | HG00438.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.143+5480C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110195941 | |||||||
| chr2:110196102 | G | T | 147 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(144): Show |
176 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(173): Show |
intron_variant | MODIFIER | c.143+5319C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110196102 | |||||||
| chr2:110196145 | T | G | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.143+5276A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110196145 | |||||||
| chr2:110196146 | T | A | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.143+5275A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110196146 | |||||||
| chr2:110196209 | G | A | 5 | a0002c0003t0001g0028 a0002c0003t0001g0272 a0002c0003t0001g0273 others(2): Show |
6 | HG02280.hp2 HG02647.hp1 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.143+5212C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110196209 | |||||||
| chr2:110196320 | C | T | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG00099.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.143+5101G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110196320 | |||||||
| chr2:110196323 | C | T | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.143+5098G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110196323 | |||||||
| chr2:110196374 | C | T | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.143+5047G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110196374 | |||||||
| chr2:110196386 | C | CA | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.143+5034dupT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110196386 | |||||||
| chr2:110196838 | G | A | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.143+4583C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110196838 | |||||||
| chr2:110196867 | A | C | 2 | a0001c0001t0001g0167 a0001c0001t0001g0168 |
2 | HG01261.hp2 HG01358.hp2 |
intron_variant | MODIFIER | c.143+4554T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110196867 | |||||||
| chr2:110196928 | C | T | 9 | a0001c0001t0001g0007 a0001c0001t0001g0160 a0001c0001t0001g0161 others(6): Show |
11 | HG01099.hp1 HG01167.hp1 HG01168.hp1 others(8): Show |
intron_variant | MODIFIER | c.143+4493G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110196928 | |||||||
| chr2:110196994 | T | C | 4 | a0001c0002t0001g0013 a0001c0002t0001g0270 a0001c0002t0002g0027 others(1): Show |
7 | HG02258.hp1 HG02451.hp1 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.143+4427A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110196994 | |||||||
| chr2:110197063 | A | C | 1 | a0001c0001t0001g0228 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.143+4358T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110197063 | |||||||
| chr2:110197136 | G | A | 1 | a0001c0002t0001g0147 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.143+4285C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110197136 | |||||||
| chr2:110197235 | G | T | 1 | a0004c0006t0001g0245 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.143+4186C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110197235 | |||||||
| chr2:110197334 | A | C | 1 | a0001c0001t0001g0159 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.143+4087T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110197334 | |||||||
| chr2:110197570 | T | A | 1 | a0001c0001t0001g0243 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.143+3851A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110197570 | |||||||
| chr2:110197590 | C | G | 1 | a0001c0002t0001g0070 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.143+3831G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110197590 | |||||||
| chr2:110197638 | T | C | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.143+3783A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110197638 | |||||||
| chr2:110198066 | C | G | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.143+3355G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110198066 | |||||||
| chr2:110198468 | A | G | 108 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(105): Show |
119 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(116): Show |
intron_variant | MODIFIER | c.143+2953T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110198468 | |||||||
| chr2:110198528 | T | G | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.143+2893A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110198528 | |||||||
| chr2:110198575 | G | A | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.143+2846C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110198575 | |||||||
| chr2:110198602 | C | A | 3 | a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 |
3 | HG00438.hp1 HG02165.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.143+2819G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110198602 | |||||||
| chr2:110198798 | CCT | C | 111 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(108): Show |
133 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show |
intron_variant | MODIFIER | c.143+2621_143+2622d others(4): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110198798 | |||||||
| chr2:110198818 | A | C | 1 | a0001c0002t0001g0069 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.143+2603T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110198818 | |||||||
| chr2:110198850 | C | T | 1 | a0001c0002t0001g0068 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.143+2571G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110198850 | |||||||
| chr2:110199185 | C | T | 2 | a0001c0002t0001g0013 a0001c0002t0001g0270 |
4 | HG02258.hp1 HG02976.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.143+2236G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110199185 | |||||||
| chr2:110199222 | C | T | 1 | a0001c0002t0001g0064 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.143+2199G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110199222 | |||||||
| chr2:110199223 | G | A | 49 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(46): Show |
57 | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(54): Show |
intron_variant | MODIFIER | c.143+2198C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110199223 | |||||||
| chr2:110199411 | T | TA | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.143+2009dupT | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110199411 | |||||||
| chr2:110199522 | G | A | 1 | a0001c0001t0001g0227 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.143+1899C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110199522 | |||||||
| chr2:110199984 | G | A | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.143+1437C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110199984 | |||||||
| chr2:110200083 | A | G | 257 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(254): Show |
297 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(294): Show |
intron_variant | MODIFIER | c.143+1338T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110200083 | |||||||
| chr2:110200124 | G | A | 98 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(95): Show |
119 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(116): Show |
intron_variant | MODIFIER | c.143+1297C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110200124 | |||||||
| chr2:110200436 | G | A | 1 | a0001c0001t0001g0244 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.143+985C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110200436 | |||||||
| chr2:110200548 | G | C | 40 | a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0248 others(37): Show |
47 | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(44): Show |
intron_variant | MODIFIER | c.143+873C>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110200548 | |||||||
| chr2:110200752 | C | T | 4 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(1): Show |
4 | HG01070.hp1 HG02683.hp1 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.143+669G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110200752 | |||||||
| chr2:110200814 | T | C | 111 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(108): Show |
133 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(130): Show |
intron_variant | MODIFIER | c.143+607A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110200814 | |||||||
| chr2:110200851 | T | C | 9 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0141 others(6): Show |
12 | HG00609.hp1 HG02165.hp2 HG04184.hp2 others(9): Show |
intron_variant | MODIFIER | c.143+570A>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110200851 | |||||||
| chr2:110201348 | C | A | 3 | a0003c0004t0001g0152 a0003c0004t0001g0153 a0003c0004t0001g0154 |
3 | HG00323.hp1 HG03688.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.143+73G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 2/19 | chr2 | 110201348 | |||||||
| chr2:110201564 | T | A | 1 | a0001c0002t0001g0148 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.70-70A>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110201564 | |||||||
| chr2:110201683 | T | G | 1 | a0001c0002t0001g0050 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.70-189A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110201683 | |||||||
| chr2:110201715 | G | A | 1 | a0001c0002t0001g0264 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.70-221C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110201715 | |||||||
| chr2:110201968 | C | T | 1 | a0001c0001t0001g0151 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.70-474G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110201968 | |||||||
| chr2:110202125 | A | G | 115 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(112): Show |
140 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(137): Show |
intron_variant | MODIFIER | c.70-631T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110202125 | |||||||
| chr2:110202261 | A | T | 2 | a0001c0001t0001g0149 a0001c0001t0001g0150 |
2 | NA18988.hp1 NA18994.hp2 |
intron_variant | MODIFIER | c.70-767T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110202261 | |||||||
| chr2:110202321 | C | G | 102 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(99): Show |
123 | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(120): Show |
intron_variant | MODIFIER | c.70-827G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110202321 | |||||||
| chr2:110202372 | C | A | 1 | a0001c0002t0001g0033 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.70-878G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110202372 | |||||||
| chr2:110202440 | C | T | 1 | a0001c0002t0001g0034 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.70-946G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110202440 | |||||||
| chr2:110202702 | C | T | 1 | a0001c0001t0001g0063 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.70-1208G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110202702 | |||||||
| chr2:110202947 | T | G | 1 | a0001c0001t0001g0265 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.70-1453A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110202947 | |||||||
| chr2:110203008 | C | T | 1 | a0001c0002t0001g0062 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.70-1514G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110203008 | |||||||
| chr2:110203091 | A | T | 16 | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0043 others(13): Show |
19 | HG00423.hp1 HG00609.hp2 HG02015.hp2 others(16): Show |
intron_variant | MODIFIER | c.70-1597T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110203091 | |||||||
| chr2:110203108 | C | A | 1 | a0001c0002t0001g0266 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.70-1614G>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110203108 | |||||||
| chr2:110203240 | ACTGGTGA others(3): Show |
A | 16 | a0001c0002t0001g0013 a0001c0002t0001g0047 a0001c0002t0001g0048 others(13): Show |
20 | HG02258.hp1 HG02280.hp2 HG02451.hp1 others(17): Show |
intron_variant | MODIFIER | c.69+1650_69+1659del others(10): Show |
NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110203240 | |||||||
| chr2:110203338 | C | T | 3 | a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 |
3 | HG01884.hp1 HG02257.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.69+1562G>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110203338 | |||||||
| chr2:110203495 | A | T | 4 | a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(1): Show |
4 | HG03239.hp2 NA18992.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.69+1405T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110203495 | |||||||
| chr2:110203680 | A | G | 1 | a0001c0001t0001g0046 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.69+1220T>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110203680 | |||||||
| chr2:110203715 | A | T | 1 | a0001c0001t0001g0016 | 2 | NA18992.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.69+1185T>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110203715 | |||||||
| chr2:110204009 | A | C | 1 | a0001c0002t0001g0030 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.69+891T>G | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110204009 | |||||||
| chr2:110204138 | T | G | 1 | a0001c0002t0001g0276 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.69+762A>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110204138 | |||||||
| chr2:110204257 | G | A | 1 | a0001c0001t0001g0029 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.69+643C>T | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110204257 | |||||||
| chr2:110204325 | G | T | 4 | a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0044 others(1): Show |
5 | NA18954.hp1 NA18979.hp2 NA18993.hp2 others(2): Show |
intron_variant | MODIFIER | c.69+575C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110204325 | |||||||
| chr2:110204357 | C | G | 14 | a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 others(11): Show |
15 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.69+543G>C | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110204357 | |||||||
| chr2:110204853 | G | T | 1 | a0001c0001t0001g0029 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.69+47C>A | NPHP1 | ENSG00000144061.14 | transcript | ENST00000445609.7 | protein_coding | 1/19 | chr2 | 110204853 |